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 |
|---|---|---|---|
| RS2511183757 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511189739 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511190471 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511191286 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511196440 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511197396 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511197570 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511197777 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511197807 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511204966 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511205378 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511210153 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511213147 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511213480 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511213538 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511214292 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511214388 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511214670 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511217778 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511217914 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511218341 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511218496 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511220896 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511221073 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511222459 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511222768 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511230006 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511230102 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511230156 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511230353 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511234717 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511234937 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511240834 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511249830 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511249838 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511249901 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511262517 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511262669 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511262763 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511262780 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511275485 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS2511275889 | Health Risk | Pathogenic | — |
| RS2511275951 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511276304 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511276931 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511276986 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511282212 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511282463 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511282703 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511283040 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |