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 |
|---|---|---|---|
| RS760004573 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS761773567 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS761910746 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS762124334 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS762646794 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS764789542 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS766301620 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS772898831 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS773765255 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS773941375 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS775629081 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS775915490 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS776701050 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS777286835 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS786200877 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS786200878 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS786204455 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS786204512 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS786204586 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS794727897 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS80358253 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS80358254 | Health Risk | Pathogenic | Niemann-Pick disease, type D, type C1 |
| RS80358257 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS80358259 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS863224902 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS876661319 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS886041356 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS886043871 | Health Risk | Pathogenic | — |
| RS886044580 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |
| RS1057517978 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1064794009 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1064795718 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1169032037 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1190383931 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS120074134 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS120074135 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, NPC1-related disorder |
| RS120074136 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1298238512 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1346436537 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1393388896 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS143124972 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS144725473 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1454412918 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1456597696 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1462754046 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1474434210 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1555631998 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555632003 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS1555632971 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555633454 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |