Hu, Mu, Rt, Po, ChHa, Ha, PmApplications:
WB, EM, ICC/IF, IHC, IHC-P, IP, KD, KOHost:
Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC, IHC-P, KO
Host: Rabbit Monoclonal
Applications: WB, ELISA, PA, AP
Niemann-Pick type C1 (NPC1) is a member of a family of genes encoding membrane-bound proteins containing putative sterol sensing domains. The protein regulates cholesterol transport from late endosomes-lysosomes to other intracellular compartments. NPC1 overexpression increases both the rate of trafficking of low density lipoprotein cholesterol to the endoplasmic reticulum and the rate of delivery of endosomal cholesterol to the plasma membrane. NPC disease is an inherited neurovisceral lipid storage disorder of unesterified cholesterol accumulation in lysosomes. It is characterized by progressive neural and liver degeneration, resulting from inactivating mutations in NPC1, in most cases.
|Product By Gene ID
- Niemann-Pick C1 protein
- Niemann-Pick disease, type C1
Bioinformatics Tool for Niemann-Pick C1
Discover related pathways, diseases and genes to Niemann-Pick C1. Need help? Read the Bioinformatics Tool Guide
for instructions on using this tool.