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 |
|---|---|---|---|
| RS1555637255 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1567944248 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS201156397 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS201226297 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS202140203 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2058637844 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, NPC1-related disorder |
| RS2058666849 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2058754429 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2059213874 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145342749 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145351244 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C, type C1 |
| RS2145366898 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145394955 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145485704 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2511197628 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511229476 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511234836 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511357450 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS28942106 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, juvenile form |
| RS28942107 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS369098773 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS372030650 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS377515417 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS398123284 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352879 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352882 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS550562774 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS564631426 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Niemann-Pick disease, type C1 |
| RS730880963 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS746715353 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS750292546 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C, type C1 |
| RS750323164 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS757534240 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS765652543 | Health Risk | Pathogenic/Likely pathogenic | NPC1-related disorder, Niemann-Pick disease, type C1 |
| RS766178353 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS767361180 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS768299417 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C, type C1 |
| RS768999208 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, See cases |
| RS770321568 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS773767253 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS774333145 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS774602107 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS774943545 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS778878523 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS781261962 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS786200879 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS786204714 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS797044431 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, adult form |
| RS80358252 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Inborn genetic diseases |
| RS80358258 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |