Version 2.80

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

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;尼曼-皮克病, C1 型;尼-皮病, C1 型;C 型 1 类尼曼-匹克蛋白;C1 型尼曼-匹克蛋白;Niemann-Pick disease, type C1;NPC1 protein;NPC
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