Anti-COX7B Antibody

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03/19 Anti-COX7B Antibody CATALOG NO.: A1756-100 100 μl. BACKGROUND DESCRIPTION: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrial- encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. ALTERNATE NAMES: Cytochrome c oxidase polypeptide VIIb, Cytochrome c oxidase subunit 7B, Cytochrome c oxidase subunit 7B mitochondrial, APLCC. ANTIBODY TYPE: Polyclonal CONCENTRATION: 0.3 mg/ml HOST/ISOTYPE: Rabbit / IgG. IMMUNOGEN: Recombinant protein of human COX7B. MOLECULAR WEIGHT: 9 kDa. PURIFICATION: Affinity purification. FORM: Liquid. FORMULATION: PBS with 0.05% sodium azide, 50% glycerol, PH7.3 SPECIES REACTIVITY: Rat. Human. STORAGE CONDITIONS: Store at -20°C. Avoid freeze / thaw cycles. APPLICATIONS AND USAGE: WB 1:500-1:2000, IHC 1:50-1:200. : IHC staining of paraffin-embedded Human colon cancer using Anti-COX7B Antibody. 155 S. Milpitas Blvd., Milpitas, CA 95035 USA | T: (408)493-1800 F: (408)493-1801 | www.biovision.com | [email protected] 03/19 : Western Blot analysis of 293T cell using Anti-COX7B Antibody. RELATED PRODUCTS: Cox-3 Antibody (3687). Cyclooxygenase (COX) Activity Assay Kit (Fluorometric) (K549). TFPI Antibody (3379). Anti-COXIV Isoform 2 Antibody (A1401). Anti-COX7B2 Antibody (A1758) FOR RESEARCH USE ONLY! Not to be used on humans. 155 S. Milpitas Blvd., Milpitas, CA 95035 USA | T: (408)493-1800 F: (408)493-1801 | www.biovision.com | [email protected] .

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COX7B Antibody
Product Datasheet COX7B Antibody Catalog No: #35581 Orders: [email protected] Description Support: [email protected] Product Name COX7B Antibody Host Species Rabbit Clonality Polyclonal Purification Antigen affinity purification. Applications WB IHC Species Reactivity Hu Specificity The antibody detects endogenous levels of total COX7B protein. Immunogen Type Recombinant Protein Immunogen Description Fusion protein corresponding to a region derived from internal residues of human Cytochrome c oxidase subunit VIIb Target Name COX7B Other Names APLCC Accession No. Swiss-Prot#: P24311NCBI Gene ID: 1349Gene Accssion: BC018386 SDS-PAGE MW 9kd Concentration 1.8mg/ml Formulation Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol. Storage Store at -20°C Application Details Western blotting: 1:500-1:2000 Immunohistochemistry: 1:50-1:200 Images Gel: 15%+10%SDS-PAGE Lysate: 50ug 293T cell Primary antibody: 1/700 dilution Secondary antibody dilution: 1/8000 Exposure time: 30 seconds Address: 8400 Baltimore Ave., Suite 302, College Park, MD 20740, USA http://www.sabbiotech.com 1 Immunohistochemical analysis of paraffin-embedded Human colon cancer tissue using #35581 at dilution 1/60. Background Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues.
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Mitochondrial Protein Interactome Elucidated by Chemical Cross-Linking Mass Spectrometry
Mitochondrial protein interactome elucidated by chemical cross-linking mass spectrometry Devin K. Schweppea,1, Juan D. Chaveza,1, Chi Fung Leeb,c,d, Arianne Caudalb,c,d, Shane E. Krusee, Rudy Stupparde, David J. Marcineke, Gerald S. Shadelf,g, Rong Tianb,c,d, and James E. Brucea,2 aDepartment of Genome Sciences, University of Washington, Seattle, WA 98105; bDepartment of Bioengineering, University of Washington, Seattle, WA 98105; cDepartment of Anesthesiology and Pain Medicine, University of Washington, Seattle, WA 98105; dMitochondria and Metabolism Center, University of Washington, Seattle WA 98105; eDepartment of Radiology, University of Washington, Seattle, WA 98105; fDepartment of Pathology Yale School of Medicine, New Haven, CT 06510; and gDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510 Edited by F. Ulrich Hartl, Max Planck Institute of Biochemistry, Martinsried, Germany, and approved December 28, 2016 (received for review October 17, 2016) Mitochondrial protein interactions and complexes facilitate mito- Chemical cross-linking mass spectrometry (XL-MS) capabilities chondrial function. These complexes range from simple dimers to the now have developed to enable high-throughput identification of respirasome supercomplex consisting of oxidative phosphorylation protein interactions in complex mixtures and living cells (22, 23). complexes I, III, and IV. To improve understanding of mitochondrial Work by many groups has led to improvements in instrumentation function, we used chemical cross-linking mass spectrometry to (24), cross-linker chemistry (25, 26), database searching (23, 24, identify 2,427 cross-linked peptide pairs from 327 mitochondrial 27, 28), spectral match filtering (29), and structural analysis based proteins in whole, respiring murine mitochondria. In situ interactions on sites of cross-linking (30–32).
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Role of Cytochrome C Oxidase Nuclear-Encoded Subunits in Health and Disease
Physiol. Res. 69: 947-965, 2020 https://doi.org/10.33549/physiolres.934446 REVIEW Role of Cytochrome c Oxidase Nuclear-Encoded Subunits in Health and Disease Kristýna ČUNÁTOVÁ1, David PAJUELO REGUERA1, Josef HOUŠTĚK1, Tomáš MRÁČEK1, Petr PECINA1 1Department of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic Received February 2, 2020 Accepted September 13, 2020 Epub Ahead of Print November 2, 2020 Summary [email protected] and Tomáš Mráček, Department of Cytochrome c oxidase (COX), the terminal enzyme of Bioenergetics, Institute of Physiology CAS, Vídeňská 1083, 142 mitochondrial electron transport chain, couples electron transport 20 Prague 4, Czech Republic. E-mail: [email protected] to oxygen with generation of proton gradient indispensable for the production of vast majority of ATP molecules in mammalian Cytochrome c oxidase cells. The review summarizes current knowledge of COX structure and function of nuclear-encoded COX subunits, which may Energy demands of mammalian cells are mainly modulate enzyme activity according to various conditions. covered by ATP synthesis carried out by oxidative Moreover, some nuclear-encoded subunits possess tissue-specific phosphorylation apparatus (OXPHOS) located in the and development-specific isoforms, possibly enabling fine-tuning central bioenergetic organelle, mitochondria. OXPHOS is of COX function in individual tissues. The importance of nuclear- composed of five multi-subunit complexes embedded in encoded subunits is emphasized by recently discovered the inner mitochondrial membrane (IMM). Electron pathogenic mutations in patients with severe mitopathies. In transport from reduced substrates of complexes I and II to addition, proteins substoichiometrically associated with COX were cytochrome c oxidase (COX, complex IV, CIV) is found to contribute to COX activity regulation and stabilization of achieved by increasing redox potential of individual the respiratory supercomplexes.
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COX7B Polyclonal Antibody Catalog Number:11417-2-AP 2 Publications
For Research Use Only COX7B Polyclonal antibody Catalog Number:11417-2-AP 2 Publications www.ptglab.com Catalog Number: GenBank Accession Number: Purification Method: Basic Information 11417-2-AP BC018386 Antigen affinity purification Size: GeneID (NCBI): Recommended Dilutions: 150ul , Concentration: 850 μg/ml by 1349 WB 1:2000-1:10000 Nanodrop and 300 μg/ml by Bradford Full Name: IHC 1:20-1:200 method using BSA as the standard; cytochrome c oxidase subunit VIIb Source: Calculated MW: Rabbit 80 aa, 9 kDa Isotype: Observed MW: IgG 9 kDa Immunogen Catalog Number: AG1988 Applications Tested Applications: Positive Controls: IHC, WB, ELISA WB : mouse brain tissue, rat brain tissue Cited Applications: IHC : human lymphoma tissue, WB Species Specificity: human, mouse, rat Cited Species: human, mouse Note-IHC: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0 COX7B, also named as Cytochrome c oxidase subunit 7B, mitochondrial, is a 80 amino acid protein, which belongs to Background Information the cytochrome c oxidase VIIb family. COX7B protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. COX7B plays a role in proper central nervous system development in vertebrates. COX7B as a terminal enzyme in the mitochondrial respiratory chain (oxidative phosphorylation OXPHOS), catalyzing the electron transfer from reduced cytochrome c to molecule oxygen and plays a role in eye development. Notable Publications Author Pubmed ID Journal Application Lei Wu 33129969 J Nutr Biochem WB Oliva Claudia R CR 20870728 J Biol Chem WB Storage: Storage Store at -20°C.
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Electron Transport Chain Activity Is a Predictor and Target for Venetoclax Sensitivity in Multiple Myeloma
ARTICLE https://doi.org/10.1038/s41467-020-15051-z OPEN Electron transport chain activity is a predictor and target for venetoclax sensitivity in multiple myeloma Richa Bajpai1,7, Aditi Sharma 1,7, Abhinav Achreja2,3, Claudia L. Edgar1, Changyong Wei1, Arusha A. Siddiqa1, Vikas A. Gupta1, Shannon M. Matulis1, Samuel K. McBrayer 4, Anjali Mittal3,5, Manali Rupji 6, Benjamin G. Barwick 1, Sagar Lonial1, Ajay K. Nooka 1, Lawrence H. Boise 1, Deepak Nagrath2,3,5 & ✉ Mala Shanmugam 1 1234567890():,; The BCL-2 antagonist venetoclax is highly effective in multiple myeloma (MM) patients exhibiting the 11;14 translocation, the mechanistic basis of which is unknown. In evaluating cellular energetics and metabolism of t(11;14) and non-t(11;14) MM, we determine that venetoclax-sensitive myeloma has reduced mitochondrial respiration. Consistent with this, low electron transport chain (ETC) Complex I and Complex II activities correlate with venetoclax sensitivity. Inhibition of Complex I, using IACS-010759, an orally bioavailable Complex I inhibitor in clinical trials, as well as succinate ubiquinone reductase (SQR) activity of Complex II, using thenoyltriﬂuoroacetone (TTFA) or introduction of SDHC R72C mutant, independently sensitize resistant MM to venetoclax. We demonstrate that ETC inhibition increases BCL-2 dependence and the ‘primed’ state via the ATF4-BIM/NOXA axis. Further, SQR activity correlates with venetoclax sensitivity in patient samples irrespective of t(11;14) status. Use of SQR activity in a functional-biomarker informed manner may better select for MM patients responsive to venetoclax therapy. 1 Department of Hematology and Medical Oncology, Winship Cancer Institute, School of Medicine, Emory University, Atlanta, GA, USA.
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The Overexpression of Cytochrome C Oxidase Subunit 6C Activated by Kras Mutation Is Related to Energy Metabolism in Pancreatic Cancer
300 Original Article The overexpression of cytochrome c oxidase subunit 6C activated by Kras mutation is related to energy metabolism in pancreatic cancer Jigang Yang1, Jun Liu1, Shuxin Zhang1, Yuanyuan Yang1, Jianhua Gong2 1Department of Nuclear Medicine, Beijing Friendship Hospital, affiliated to Capital Medical University, Beijing 100050, China; 2Department of Oncology, Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100050, China. Contributions: (I) Conception and design: J Yang, J Gong; (II) Administrative support: J Gong; (III) Provision of study materials: J Liu; (IV) Collection and assembly of data: S Zhang, Y Yang; (V) Data analysis and interpretation: S Zhang, Y Yang; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Jianhua Gong. Oncology department, Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences, 1# Tiantan Xili, Beijing 100050, China. Email: [email protected]. Background: Kras mutation is frequently detected in pancreatic cancers and leads to altered energy metabolite. Here we investigated molecule markers related with Kras mutation, which could be used as developing new target for Kras mutant driven cancer. Methods: A knockin BxPC-3/KrasG12D cell line was constructed by CRISPR/Cas9 system. Proliferation and metabolite characterization in BxPC-3/KrasG12D was compared with wild type BxPC-3 by using colony formation assay and mitochondrial dyes. The differential genes were screened using mitochondrial metabolite-related genes PCR array. The expression of COX6C was confirmed by real time polymerase chain reaction (RT-PCR) and western blot. COX6C expression in 30 pairs of tissue microarray of pancreatic carcinoma and matched adjacent tissues was analyzed by immunohistochemistry.
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Nrf2 Contributes to the Weight Gain of Mice During Space Travel
ARTICLE https://doi.org/10.1038/s42003-020-01227-2 OPEN Nrf2 contributes to the weight gain of mice during space travel Takafumi Suzuki 1,17, Akira Uruno1,2,17, Akane Yumoto3,17, Keiko Taguchi1,2,4, Mikiko Suzuki 5, Nobuhiko Harada6, Rie Ryoke7, Eriko Naganuma1, Nanae Osanai1, Aya Goto8, Hiromi Suda1, Ryan Browne7, Akihito Otsuki 2, Fumiki Katsuoka2,4, Michael Zorzi 9, Takahiro Yamazaki2, Daisuke Saigusa2, 1234567890():,; Seizo Koshiba2,4, Takashi Nakamura 10, Satoshi Fukumoto11, Hironobu Ikehata1, Keizo Nishikawa12, Norio Suzuki13, Ikuo Hirano2,8, Ritsuko Shimizu2,8, Tetsuya Oishi13, Hozumi Motohashi 14, Hirona Tsubouchi15, Risa Okada3,15, Takashi Kudo15, Michihiko Shimomura3, Thomas W. Kensler 16, Hiroyasu Mizuno3, ✉ ✉ Masaki Shirakawa3, Satoru Takahashi 15, Dai Shiba3 & Masayuki Yamamoto 1,2,4 Space flight produces an extreme environment with unique stressors, but little is known about how our body responds to these stresses. While there are many intractable limitations for in-flight space research, some can be overcome by utilizing gene knockout-disease model mice. Here, we report how deletion of Nrf2, a master regulator of stress defense pathways, affects the health of mice transported for a stay in the International Space Station (ISS). After 31 days in the ISS, all flight mice returned safely to Earth. Transcriptome and metabolome analyses revealed that the stresses of space travel evoked ageing-like changes of plasma metabolites and activated the Nrf2 signaling pathway. Especially, Nrf2 was found to be important for maintaining home- ostasis of white adipose tissues. This study opens approaches for future space research utilizing murine gene knockout-disease models, and provides insights into mitigating space-induced stresses that limit the further exploration of space by humans.
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Multiple Mechanisms Regulate Eukaryotic Cytochrome C Oxidase
cells Review Multiple Mechanisms Regulate Eukaryotic Cytochrome C Oxidase Rabia Ramzan 1, Bernhard Kadenbach 2,* and Sebastian Vogt 3 1 Cardiovascular Research Laboratory, Biochemical-Pharmacological Center, Philipps-University Marburg, Karl-von-Frisch-Strasse 1, D-35043 Marburg, Germany; [email protected] 2 Fachbereich Chemie, Philipps-University, D-35032 Marburg, Germany 3 Department of Heart Surgery, Campus Marburg, University Hospital of Giessen and Marburg, D-35043 Marburg, Germany; [email protected] * Correspondence: [email protected] Abstract: Cytochrome c oxidase (COX), the rate-limiting enzyme of mitochondrial respiration, is regulated by various mechanisms. Its regulation by ATP (adenosine triphosphate) appears of particular importance, since it evolved early during evolution and is still found in cyanobacteria, but not in other bacteria. Therefore the “allosteric ATP inhibition of COX” is described here in more detail. Most regulatory properties of COX are related to “supernumerary” subunits, which are largely absent in bacterial COX. The “allosteric ATP inhibition of COX” was also recently described in intact isolated rat heart mitochondria. Keywords: mitochondria; energy metabolism; respiration; regulation; cytochrome c oxidase; adenine nucleotides; electron transport; efﬁciency; ROS generation 1. Introduction Citation: Ramzan, R.; Kadenbach, B.; There exists a basic difference in the regulation of ATP synthesis by oxidative phospho- Vogt, S. Multiple Mechanisms rylation (OxPhos) between bacteria (except cyanobacteria) and eukaryotic organisms. Aer- Regulate Eukaryotic Cytochrome C obic bacteria grow and divide continuously under constant conditions. Higher organisms Oxidase. Cells 2021, 10, 514. https:// change the rates of ATP synthesis and consumption up to a factor of 10 depending on vari- doi.org/10.3390/cells10030514 ous inner and outer signals.
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Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions
International Journal of Molecular Sciences Review Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions Margherita Protasoni 1 and Massimo Zeviani 1,2,* 1 Mitochondrial Biology Unit, The MRC and University of Cambridge, Cambridge CB2 0XY, UK; [email protected] 2 Department of Neurosciences, University of Padova, 35128 Padova, Italy * Correspondence: [email protected] Abstract: Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets. Keywords: ATP production; biogenesis of the respiratory chain; mitochondrial disease; mi-tochondrial electrochemical gradient; mitochondrial potential; mitochondrial proton pumping; mitochondrial respiratory chain; oxidative phosphorylation; respiratory complex; respiratory supercomplex Citation: Protasoni, M.; Zeviani, M.
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Network-Based Approach to Identify Prognosis-Related Genes in Tamoxifen-Treated Patients with Estrogen Receptor-Positive Breast
Bioscience Reports (2021) 41 BSR20203020 https://doi.org/10.1042/BSR20203020 Research Article Network-based approach to identify prognosis-related genes in tamoxifen-treated patients with estrogen receptor-positive breast cancer Downloaded from http://portlandpress.com/bioscirep/article-pdf/41/9/BSR20203020/920151/bsr-2020-3020.pdf by guest on 25 September 2021 Yanyan Wang1, Xiaonan Gong1 and Yujie Zhang2 1Department of Breast Surgery, The Second Afﬁliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou 310009, China; 2Department of Orthopedic Surgery, The Second Afﬁliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou 310009, China Correspondence: Yujie Zhang ([email protected]) Tamoxifen is an estrogen receptor (ER) antagonist that is most commonly used for the treat- ment of ER-positive breast cancer. However, tamoxifen resistance remains a major cause of cancer recurrence and progression. Here, we aimed to identify hub genes implicated in the progression and prognosis of ER-positive breast cancer following tamoxifen treatment. Mi- croarray data (GSE9893) for 155 tamoxifen-treated primary ER-positive breast cancer sam- ples were obtained from the Gene Expression Omnibus database. In total, 1706 differentially expressed genes (DEGs), including 859 up-regulated and 847 down-regulated genes, were identified between relapse and relapse-free samples. Weighted correlation network anal- ysis clustered genes into 13 modules, among which the tan and blue modules were the most significantly related to prognosis. From these two modules, we further identified and validated two prognosis-related hub genes (G-rich RNA sequence binding factor 1 (GRSF1) and microtubule-associated protein τ (MAPT)) via survival analysis based on several publicly available datasets.
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Clinical Spectrum of Females with HCCS Mutation: from No Clinical Signs to a Neonatal Lethal Form of the Microphthalmia with Linear Skin Defects (MLS) Syndrome
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. Vanessa van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Kosyna, Hiram de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta Lachmeijer, et al. To cite this version: Vanessa van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Kosyna, Hiram de Almeida, et al.. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.. Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.53. 10.1186/1750-1172-9-53. inserm-00981854 HAL Id: inserm-00981854 https://www.hal.inserm.fr/inserm-00981854 Submitted on 23 Apr 2014 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. van Rahden et al. Orphanet Journal of Rare Diseases 2014, 9:53 http://www.ojrd.com/content/9/1/53 RESEARCH Open Access Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal
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X-Linked Intellectual Disability (Revised April 2021)
X-Linked Intellectual Disability (revised April 2021) Information posted on these pages are intended to complement and update the Atlas of X- Linked Intellectual Disability Syndromes, Edition 2, by Stevenson, Schwartz, and Rogers (Oxford University Press, 2012) and the XLID Update 2017 (Neri et al. Am J Med Genet 176A:1375, 2018) New X-linked intellectual disability syndromes, new gene localizations, revised gene localizations, and gene identifications are presented in abbreviated form with appropriate references. Three graphics show syndromal XLID genes, IDX genes, and linkage limits. A table gives gene identifications in chronological order. I. New Syndromes and Localizations II. New Gene Identifications III. IDX Families, Genes and Loci IV. Segmental X Chromosome Duplications V. Summary of XLID: Figures (3) and Table of Gene Identifications I. New Syndromes and Localizations (2017 – Present) Linear skin defects. Indrieri et al. (AJHG 91:942, 2012) discovered COX7B (Xq21.1) alterations in 2 girls with linear skin defects, intellectual disability, microcephaly and facial dysmorphisms. One girl, an isolated case, also had cardiac, renal, and diaphragmatic anomalies and short stature. In the second case with a nonsense alteration, the mother carried the gene alteration and the linear skin defect but no cognitive impairment. In a separate family, a girl with a frameshift change in COX7B had linear skin defects, microcephaly, and short stature but normal developmental milestones. UDP-Galactose Transporter Deficiency. Three females, ages 8-12 years, with early onset epileptic encephalopathy, facial dysmorphism, absent speech, and variable MRI findings were found to have alterations in SLC35A2 by Kodera et al. (Hum Mutat 34:1708, 2013).
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