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 |
|---|---|---|---|
| RS1057516603 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057516749 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057516950 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057517149 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057517194 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1057517455 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS1057518613 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1131691558 | Health Risk | Pathogenic | — |
| RS1160114136 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1165786597 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1179995303 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, NPC1-related disorder |
| RS1191346899 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS120074130 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, adult form |
| RS1257362365 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1261939149 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS1263493813 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1274484561 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1278305591 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1338210490 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1352485089 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1364421307 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS139751448 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS1405889589 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1410351489 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS144973225 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555631888 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555631982 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555632977 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555633326 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555634739 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555635957 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS1555637139 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555637164 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555641037 | Health Risk | Pathogenic | — |
| RS1555642296 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555645630 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1567948623 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1567965488 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1598954455 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058572084 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058572301 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058574038 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058614971 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058616798 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058688995 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058690179 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058697907 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058707982 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058711607 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058711926 | Health Risk | Pathogenic | Niemann-Pick disease, type C, Niemann-Pick disease |