DNAI1 (Human) Recombinant Storage Buffer: 50 Mm Tris-HCI, 10 Mm Reduced Protein (P01) Glutathione, Ph=8.0 in the Elution Buffer

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DNAI1 (Human) Recombinant Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Protein (P01) Glutathione, pH=8.0 in the elution buffer. Storage Instruction: Store at -80°C. Aliquot to avoid Catalog Number: H00027019-P01 repeated freezing and thawing. Regulation Status: For research use only (RUO) Entrez GeneID: 27019 Product Description: Human DNAI1 full-length ORF ( Gene Symbol: DNAI1 AAH30583, 1 a.a. - 699 a.a.) recombinant protein with GST-tag at N-terminal. Gene Alias: CILD1, ICS, ICS1, MGC26204, PCD Sequence: Gene Summary: The inner- and outer-arm dyneins, MIPASAKSPHKQPHKQSISIGRGTRKRDEDSGTEVGE which bridge between the doublet microtubules in GTDEWAQSKATVRPPDQLELTDAELKEEFTRILTANNP axonemes, are the force-generating proteins responsible HAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPK for the sliding movement in axonemes. The intermediate DSDEGRRQHYRDELVAGSQESVKVISETGNLEEDEEP and light chains, thought to form the base of the dynein KELETEPGSQTDVPAAGAAEKVTEEELMTPKQPKERK arm, help mediate attachment and may also participate LTNQFNFSERASQTCNNPVRDRECQTEPPPRTNFSAT in regulating dynein activity. This gene encodes an ANQWEIYDAYVEELEKQEKTKEKEKAKTPVAKKSGKM intermediate chain dynein, belonging to the large family AMRKLTSMESQTDDLIKLSQAAKIMERMVNQNTYDDIA of motor proteins. Mutations in this gene result in QDFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSV abnormal ciliary ultrastructure and function associated TALCWNPKYRDLFAVGYGSYDFMKQSRGMLLLYSLK with primary ciliary dyskinesia (PCD) and Kartagener NPSFPEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNV syndrome. [provided by RefSeq] AIYNLKKPHSQPSFCSSAKSGKHSDPVWQVKWQKDD MDQNLNFFSVSSDGRIVSWTLVKRKLVHIDVIKLKVEG STTEVPEGLQLHQVGCGTAFDFHKEIDYMFLVGTEEG KIYKCSKSYSSQFLDTYDAHNMSVDTVSWNPYHTKVF MSCSSDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPY SSTVFAAVTTDGKAHIFDLAINKYEAICNQPVAAKKNRL THVQFNLIHPIIIVGDDRGHIISLKLSPNLRKMPKEKKGQ EVQKGPAVEIAKLDKLLNLVREVKIKT Host: Wheat Germ (in vitro) Theoretical MW (kDa): 102.63 Applications: AP, Array, ELISA, WB-Re (See our web site product page for detailed applications information) Protocols: See our web site at http://www.abnova.com/support/protocols.asp or product page for detailed protocols Preparation Method: in vitro wheat germ expression system Purification: Glutathione Sepharose 4 Fast Flow Page 1/1 Powered by TCPDF (www.tcpdf.org).

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Educational Paper Ciliopathies
Eur J Pediatr (2012) 171:1285–1300 DOI 10.1007/s00431-011-1553-z REVIEW Educational paper Ciliopathies Carsten Bergmann Received: 11 June 2011 /Accepted: 3 August 2011 /Published online: 7 September 2011 # The Author(s) 2011. This article is published with open access at Springerlink.com Abstract Cilia are antenna-like organelles found on the (NPHP) . Ivemark syndrome . Meckel syndrome (MKS) . surface of most cells. They transduce molecular signals Joubert syndrome (JBTS) . Bardet–Biedl syndrome (BBS) . and facilitate interactions between cells and their Alstrom syndrome . Short-rib polydactyly syndromes . environment. Ciliary dysfunction has been shown to Jeune syndrome (ATD) . Ellis-van Crefeld syndrome (EVC) . underlie a broad range of overlapping, clinically and Sensenbrenner syndrome . Primary ciliary dyskinesia genetically heterogeneous phenotypes, collectively (Kartagener syndrome) . von Hippel-Lindau (VHL) . termed ciliopathies. Literally, all organs can be affected. Tuberous sclerosis (TSC) . Oligogenic inheritance . Modifier. Frequent cilia-related manifestations are (poly)cystic Mutational load kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous Introduction system, occurring either isolated or as part of syn- dromes. Characterization of ciliopathies and the decisive Defective cellular organelles such as mitochondria, perox- role of primary cilia in signal transduction and cell isomes, and lysosomes are well-known
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Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
NeuromuscularCiliopathiesNeuromuscularCiliopathies Disorders Disorders CiliopathiesCiliopathies AboutAbout EGL EGL Genet Geneticsics EGLEGL Genetics Genetics specializes specializes in ingenetic genetic diagnostic diagnostic testing, testing, with with ne nearlyarly 50 50 years years of of clinical clinical experience experience and and board-certified board-certified labor laboratoryatory directorsdirectors and and genetic genetic counselors counselors reporting reporting out out cases. cases. EGL EGL Genet Geneticsics offers offers a combineda combined 1000 1000 molecular molecular genetics, genetics, biochemical biochemical genetics,genetics, and and cytogenetics cytogenetics tests tests under under one one roof roof and and custom custom test testinging for for all all medically medically relevant relevant genes, genes, for for domestic domestic andand international international clients. clients. EquallyEqually important important to to improving improving patient patient care care through through quality quality genetic genetic testing testing is is the the contribution contribution EGL EGL Genetics Genetics makes makes back back to to thethe scientific scientific and and medical medical communities. communities. EGL EGL Genetics Genetics is is one one of of only only a afew few clinical clinical diagnostic diagnostic laboratories laboratories to to openly openly share share data data withwith the the NCBI NCBI freely freely available available public public database database ClinVar ClinVar (>35,000 (>35,000 variants variants on on >1700 >1700 genes) genes) and and is isalso also the the only only laboratory laboratory with with a a frefree oen olinnlein dea dtabtaabsaes (eE m(EVmCVlaCslas)s,s f)e, afetuatruinrgin ag vaa vraiarniatn ctl acslasisfiscifiactiaotino sne saercahrc ahn adn rde rpeoprot rrte rqeuqeuset sint tinetrefarcfaec, ew, hwichhic fha cfailcitialiteatse rsa praidp id interactiveinteractive curation curation and and reporting reporting of of variants.
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Ciliopathies Gene Panel
Ciliopathies Gene Panel Contact details Introduction Regional Genetics Service The ciliopathies are a heterogeneous group of conditions with considerable phenotypic overlap. Levels 4-6, Barclay House These inherited diseases are caused by defects in cilia; hair-like projections present on most 37 Queen Square cells, with roles in key human developmental processes via their motility and signalling functions. Ciliopathies are often lethal and multiple organ systems are affected. Ciliopathies are London, WC1N 3BH united in being genetically heterogeneous conditions and the different subtypes can share T +44 (0) 20 7762 6888 many clinical features, predominantly cystic kidney disease, but also retinal, respiratory, F +44 (0) 20 7813 8578 skeletal, hepatic and neurological defects in addition to metabolic defects, laterality defects and polydactyly. Their clinical variability can make ciliopathies hard to recognise, reflecting the ubiquity of cilia. Gene panels currently offer the best solution to tackling analysis of genetically Samples required heterogeneous conditions such as the ciliopathies. Ciliopathies affect approximately 1:2,000 5ml venous blood in plastic EDTA births. bottles (>1ml from neonates) Ciliopathies are generally inherited in an autosomal recessive manner, with some autosomal Prenatal testing must be arranged dominant and X-linked exceptions. in advance, through a Clinical Genetics department if possible. Referrals Amniotic fluid or CV samples Patients presenting with a ciliopathy; due to the phenotypic variability this could be a diverse set should be sent to Cytogenetics for of features. For guidance contact the laboratory or Dr Hannah Mitchison dissecting and culturing, with ([email protected]) / Prof Phil Beales ([email protected]) instructions to forward the sample to the Regional Molecular Genetics Referrals will be accepted from clinical geneticists and consultants in nephrology, metabolic, laboratory for analysis respiratory and retinal diseases.
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Establishment of the Early Cilia Preassembly Protein Complex
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Next Generation Massively Parallel Sequencing of Targeted
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IFM) Analysis of Primary Ciliary Dyskinesia (PCD) Patients with Suspected Inner Dynein Arm Defects (IDA
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Supplementary Table 1
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Carrier Distribution
Multigene Testing for Primary Ciliary Dyskinesia (PCD): Diagnostic Yield and Phenotypic Summary Jade E Tinker, Heather A Newman, Sarah E Witherington, Kendra Waller, Jennifer Thompson, Jill S. Dolinsky, Chia-Ling Gau, Brigette Tippin Davis Ambry Genetics Corporation, Aliso Viejo, California BACKGROUND METHODS MUTATION DISTRIBUTION IN • • DNA samples from 691 individuals with a clinical suspicion of PCD were POSITVE CASES Primary ciliary dyskinesia (PCD) is a rare genetic condition caused by abnormal ciliary action or structural defects in embryonic and postnatal life. referred for clinical genetic testing between November 2011 and June 2014 • Out of the 691 individuals tested, a genetic • Symptoms can include situs inversus or situs ambiguous, respiratory disease and were analyzed with a PCD multigene sequencing panel that included diagnosis (2 pathogenic mutations in with sinusitis and bronchiectasis, chronic otitis media, and male infertility. the following genes: DNAH5, DNAI1, DNAI2, DNAH11, TXNDC3, RSPH4A, autosomal recessive genes or 1 hemizygous • Historically, mutations in DNAI1 and DNAH5 were estimated to account for RSPH9, DNAAF1, DNAAF2, RPGR, OFD1, and CFTR. pathogenic mutation in X-linked genes) was up to 30% of all cases of PCD, while mutations in other known genes • Due to the high carrier frequency of cystic fibrosis (CF) and phenotypic provided in 42 individuals (6%). accounted for only a small percentage, and the genetic etiology in a large overlap between PCD and CF, the CFTR gene is included on the panel. • Of the 42 positive cases, 57% (n=24) had portion of cases remains unknown. • PCD is a recessive condition, and the majority of implicated genes are mutations identified in two genes: DNAH5 • With the availability of next generation sequencing, simultaneous autosomal.
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Avero® Exon Global 280+ Genes
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DNAI1 Gene Dynein Axonemal Intermediate Chain 1
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