LP186170-9
NPC1 gene
Active
Descriptions
The NPC1 gene is located on chromosome 18q11.2 and encodes Niemann-Pick C1 protein, which is involved in intracellular cholesterol transport. NPC1 mutations cause Niemann-Pick disease type C1 and type D, which are clinically indistinguishable and have both childhood and adult-onset forms. The childhood form is associated with progressive neurodegeneration, seizures, and spasticity beginning between ages 2 and 4, with death by age 15. The adult-onset form has a more subtle onset and slower progression. [OMIM: 257220] Source: Regenstrief LOINC , OMIM: 257220
The NPC1 gene (Niemann-Pick disease, type C1) [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
- Part Display Name
- NPC1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-11-03
- Construct for LOINC Short Name
- NPC1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP186170-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen NPC1 |
| zh-CN | Chinese (China) | NPC1 基因 Synonyms: NPC1 蛋白; |
| it-IT | Italian (Italy) | NPC1, gene Synonyms: Gene NPC1 |
| tr-TR | Turkish (Turkey) | NPC1 geni |
| nl-NL | Dutch (Netherlands) | NPC1-gen Synonyms: NPC1 gen |
| el-GR | Greek (Greece) | Γονίδιο NPC1 Synonyms: Γονίδιο NPC1 |
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