NPC1 Chromosome 18
NPC intracellular cholesterol transporter 1
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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 |
|---|---|---|---|
| RS2058753286 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058753352 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS2058756032 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058768195 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058768417 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058769608 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058926540 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058928573 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058949697 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059020261 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059233076 | Health Risk | Pathogenic | Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type C |
| RS2059233403 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145336359 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145350930 | Health Risk | Pathogenic | Niemann-Pick disease, type C, Niemann-Pick disease |
| RS2145351287 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145351545 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145351616 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145351971 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145357371 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145357627 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145357685 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145357984 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145366125 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145366821 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145370503 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145370569 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Inborn genetic diseases |
| RS2145370732 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145373524 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145378067 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145381556 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145400078 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145433024 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145446953 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145447627 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145447827 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145456711 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145479494 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145481013 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145527060 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145527075 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145544354 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145544570 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145552247 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145552346 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145603843 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2496350900 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511176526 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511176814 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511176956 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511183558 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |