LP417412-6
NPC1 gene+NPC2 gene
Active
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 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
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP417412-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | NPC1-gen + NPC2-gen |
| zh-CN | Chinese (China) | NPC1 基因+NPC2 基因 |
| it-IT | Italian (Italy) | NPC1, gene+NPC2, gene |
| es-ES | Spanish (Spain) | Gen NPC1+NPC2 |
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