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 |
|---|---|---|---|
| RS2511176123 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511176179 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2511183145 | Health Risk | Likely pathogenic | — |
| RS2511183420 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511184148 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511184214 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511184326 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511189114 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511190372 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511191252 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511191312 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511191394 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511196532 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511196908 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511196937 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511197169 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511197297 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511198096 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511204987 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511205258 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511209939 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511210229 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511210490 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511210759 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511210964 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511213406 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511213925 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511221368 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511221794 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511222745 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511223044 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511230031 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511234988 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511235295 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511235321 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511235412 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511235793 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511240699 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511240863 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511250025 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511262593 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511262796 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511275309 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511275904 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511277102 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511282261 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511288024 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C, Niemann-Pick disease |
| RS2511288528 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511302158 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511302863 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |