LP417412-6

NPC1 gene+NPC2 gene

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Description

The NPC1 gene+NPC2 gene (NPC intracellular cholesterol transporter 1) [HGNC Gene ID:7897] is located on chromosome 18q11.2. 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] [NCBI Gene ID:4864] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

NPC1 gene+NPC2 gene

Part Display Name

NPC1 gene+NPC2 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2020-01-13

Construct for LOINC Short Name

NPC1+NPC2

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