NPC1 Chromosome 18
NPC intracellular cholesterol transporter 1
Upload your DNA to see your personal genotypes for variants in NPC1.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 65
Locus Type
gene with protein product
Location
18q11.2
Ensembl
ENSG00000141458
Associated Conditions (23)
Niemann-Pick disease
type C1
type C
Sphingomyelin/cholesterol lipidosis
NPC1-related disorder
Inborn genetic diseases
Dystonic disorder
Melanoma
Malignant tumor of esophagus
Papillary renal cell carcinoma type 1
Familial cancer of breast
Uterine corpus endometrial carcinoma
Russell-Silver syndrome
Nasopharyngeal carcinoma
juvenile form
Ovarian serous cystadenocarcinoma
Abnormality of metabolism/homeostasis
adult form
6 conditions
type C2
+3 more conditions
Key Variants
RS1046046139
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS1053321823
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, type C
Health Risk
RS1057517077
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS1057519229
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS1064793791
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS111256741
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, NPC1-related disorder
Health Risk
RS112387560
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, NPC1-related disorder
Health Risk
RS113371321
Conflicting classifications of pathogenicity
Dystonic disorder, Niemann-Pick disease, type C1
Health Risk
RS1192824648
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS120074132
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS1208252513
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Inborn genetic diseases
Health Risk
RS1234099104
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
All Variants (654)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS911696662 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS965937353 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1040639267 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057516260 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057516647 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057516813 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057517005 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057517186 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057517197 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057518711 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057518942 | Health Risk | Likely pathogenic | Dystonic disorder, Dystonic disorder |
| RS1057519242 | Health Risk | Likely pathogenic | — |
| RS1168944129 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1181604094 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1184804915 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1194990534 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C, Niemann-Pick disease |
| RS120074131 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, juvenile form |
| RS1230538609 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1300893995 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1310067072 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1363313204 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1428599096 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1444308532 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1444840655 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1446718670 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1454083299 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1470058408 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1473909084 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1478525243 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS150154006 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555631571 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Ovarian serous cystadenocarcinoma |
| RS1555631610 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555631642 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555631653 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555631957 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555632182 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555632994 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555633118 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555633309 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555633361 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555633697 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1555634236 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555634422 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Sphingomyelin/cholesterol lipidosis |
| RS1555634508 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555634513 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555634690 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555636659 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Inborn genetic diseases |
| RS1555636712 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555637232 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555638409 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |