蛋白名称
Battenin (Batten disease protein) (Protein CLN3)
免疫原
Synthesized peptide derived from human protein . at AA range: 221-270
特异性
CLN3 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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. [provided by RefSeq, Jul 2008],
功能
alternative products:Additional isoforms seem to exist,disease:Defects in CLN3 are the cause of Batten disease [MIM:204200]; also known as juvenile-onset ceroid lipofuscinosis neuronal type 3 (CLN3). Batten disease is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. Biochemically, the disease is characterized by lysosomal accumulation of hydrophobic material, mainly ATP synthase subunit C. Clinical onset is usually from 5 to 10 years of age. No treatment is available and Batten disease is usually fatal within a decade. The incidence is estimated at 1/20000 to 1/100000 live birth, making it one of the most common neurodegenerative diseases of childhood.,online information:Neural Ceroid Lipofuscinoses mutation db,online information:Retina International's Scientific Newsletter,PTM:Highly glyc
