产品名称
NPC1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/4864
Human Swissprot No.
O15118
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O15118/entry
Mouse Swissprot No.
O35604
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/O35604
免疫原
Synthesized peptide derived from human NPC1 AA range: 1073-1123
特异性
This antibody detects endogenous levels of NPC1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009],
细胞定位
Late endosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein .
功能
disease:Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1) [MIM:257220]. NPC1 is an autosomal recessive lipid storage disorder, which affects particularly the brain, liver and spleen, and which is characterized by lysosomal accumulation of low density lipoprotein derived cholesterol. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.,disease:Defects in NPC1 are the cause of Niemann-Pick disease type D (NPD) [MIM:257220]; also known as Niemann-Pick disease without sphingomyelinase deficiency, or Nova Scotian type. Because of evidence from biochemical changes, lack of complementation, and linkage mapping to the same chromosome site, NPD and NPC1 are considered to be allelic disorders.,domain:A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.,function:Involved in the intracellular trafficking of cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.,PTM:Glycosylated.,similarity:Belongs to the patched family.,similarity:Contains 1 SSD (sterol-sensing) domain.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
