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Rabbit Anti-MFSD8/FITC Conjugated Antibody-SL18906R-FITC

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Rabbit Anti-MFSD8/FITC Conjugated Antibody-SL18906R-FITC SunLong Biotech Co.,LTD Tel: 0086-571- 56623320 Fax:0086-571- 56623318 E-mail:[email protected] www.sunlongbiotech.com Rabbit Anti-MFSD8/FITC Conjugated antibody SL18906R-FITC Product Name: Anti-MFSD8/FITC Chinese Name: FITC标记的MFSD8蛋白抗体 Ceroid-lipofuscinosis neuronal protein 7; CLN7; Major facilitator superfamily domain- Alias: containing protein 8; MFSD8; MFSD8_HUMAN. Organism Species: Rabbit Clonality: Polyclonal React Species: Human,Mouse,Rat,Pig,Cow,Rabbit,Sheep, ICC=1:50-200IF=1:50-200 Applications: not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. Molecular weight: 57kDa Form: Lyophilized or Liquid Concentration: 1mg/ml immunogen: KLH conjugated synthetic peptide derived from human MFSD8 Lsotype: IgG Purification: affinity purified by Protein A Storage Buffer: 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storewww.sunlongbiotech.com at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year Storage: when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. background: This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The Product Detail: substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008] Function: May be a carrier that transport small solutes by using chemiosmotic ion gradients. Subcellular Location: Lysosome membrane. Tissue Specificity: Expressed at very low levels in all tissues tested. DISEASE: Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]. A form of late infantile neuronal ceroid lipofuscinosis. CNL are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure. Similarity: Belongs to the major facilitator superfamily. Database links: Entrez Gene: 256471 Human Entrez Gene: 72175 Mouse Entrez Gene: 361939 Rat Omim: 611124 Human SwissProt: Q8NHS3 Human SwissProt:www.sunlongbiotech.com Q8BH31 Mouse Unigene: 480701 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. .
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  • History of Cln7 Biology of Cln7 Symptoms Diagnosis Management Strategies
    Understanding CLN7 HISTORY OF CLN7 BIOLOGY OF CLN7 SYMPTOMS DIAGNOSIS MANAGEMENT STRATEGIES Understanding CLN7 Batten disease is a group of rare neurodegenerative diseases, also known as neuronal ceroid lipofuscinoses (NCLs). Each NCL disease is classified by the gene that causes it. The name of each gene begins with CLN – ceroid lipofuscinosis, neuronal – followed by a unique number that indicates the subtype. Changes in the normal function of these genes, due to pathogenic variants, lead to disruption of normal protein function. This disruption results in lysosomal dysfunction, and the accumulation of molecules in the cells throughout the body. The symptoms, severity, onset, and progression across the subtypes vary. Both males and females are affected. The CLN7 subtype of Batten disease is caused by a variant in the CLN7 gene, also called the MFSD8 gene, which leads to disruption of normal CLN7 protein function. The exact function of this protein is unknown. Individuals with CLN7 typically develop neurological signs and symptoms in early childhood, such as seizures, progressive deterioration in intellectual and motor capabilities, and loss of vision. The disease ultimately leads to a shortened lifespan. Source: Batten Disease Fact Sheet. (2019, June 24). Retrieved August 8, 2019, from link. History of CLN7 History of Batten Disease Batten disease, a common name for a rare class of diseases called neuronal ceroid lipofuscinoses (NCLs), was first described in 1903 by British neurologist and pediatrician Frederick Batten. Today, there are 13 known subtypes of Batten disease. Symptoms and disease management for each subtype of Batten disease vary, although several subtypes share similar features and symptoms.
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