CLN3 Antibody (monoclonal) (M03)
Mouse monoclonal antibody raised against a full length recombinant CLN3.
|Application ||WB, E|
|Calculated MW||47623 Da|
|Other Names||Battenin, Batten disease protein, Protein CLN3, CLN3, BTS|
|Target/Specificity||CLN3 (AAH02394.1, 1 a.a. ~ 438 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||CLN3 Antibody (monoclonal) (M03) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Adams HR, et al. Dev Med Child Neurol, 2010 Jul. PMID 20187884.Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease. Vitiello SP, et al. Hum Mol Genet, 2010 Mar 1. PMID 20015955.Common variants at five new loci associated with early-onset inflammatory bowel disease. Imielinski M, et al. Nat Genet, 2009 Dec. PMID 19915574.Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). Sarpong A, et al. Clin Genet, 2009 Jul. PMID 19489875.S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. Codlin S, et al. J Cell Sci, 2009 Apr 15. PMID 19299465.
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