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 |
|---|---|---|---|
| RS2511283263 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511283295 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511283868 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511283953 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511284054 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511284582 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511284626 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511288288 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511288653 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511301664 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511302653 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511302764 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511302777 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511302955 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511303464 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511303827 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511309763 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511340832 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511340936 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511340972 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511341214 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511352133 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511352293 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511357416 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511358068 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511358187 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS28940897 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS369368181 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS370721218 | Health Risk | Pathogenic | Niemann-Pick disease, type C, type C1 |
| RS370766410 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS372445155 | Health Risk | Pathogenic | 6 conditions, Niemann-Pick disease, type C1 |
| RS483352880 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352881 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352883 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352884 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352885 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352886 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS483352887 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352889 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS483352890 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS543206298 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS746372120 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS748837410 | Health Risk | Pathogenic | — |
| RS749012588 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, juvenile form |
| RS750095738 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS751249367 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS753768576 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS758231839 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS759075595 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS759826138 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, juvenile form |