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 |
|---|---|---|---|
| RS1555638833 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555641027 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1555642347 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1567966452 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1567977251 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1598937493 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1598942578 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1599011473 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1835896772 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS200444084 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2033609417 | Health Risk | Likely pathogenic | — |
| RS2058572854 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058596611 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058616184 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058665849 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058678962 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058679233 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058685029 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058687419 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058698544 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058698654 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058712401 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058753693 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058754064 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058768795 | Health Risk | Likely pathogenic | — |
| RS2058813191 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058929021 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2058953311 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059018297 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059021939 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059164609 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059164764 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059231880 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2059233326 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145350224 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS2145351377 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145366579 | Health Risk | Likely pathogenic | Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis |
| RS2145378239 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145394815 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145400163 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145433190 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145433298 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145446753 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145447716 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145447843 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145455429 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145457097 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145479791 | Health Risk | Likely pathogenic | — |
| RS2145526252 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2145544950 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |