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 |
|---|---|---|---|
| RS2511303175 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511308216 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511308451 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511309193 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511309222 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511309549 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511340604 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511341044 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511341154 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511341408 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511341428 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511341561 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511352190 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C, Niemann-Pick disease |
| RS2511358085 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS2511394914 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS28942108 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS373751051 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS374068891 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS374526072 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS376213990 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS483352888 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS7227375 | Health Risk | Likely pathogenic | — |
| RS745777805 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS745892286 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C, Niemann-Pick disease |
| RS747049347 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS750739947 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS752409181 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS753419933 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS753637056 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS754653682 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS756853895 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS757477471 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS758902805 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS760935117 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, NPC1-related disorder |
| RS761952957 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS764472245 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS765729815 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, type C |
| RS769570326 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS770580241 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS771806960 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS773351341 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS776682510 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS779065920 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS780175800 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS780592540 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C, type C1 |
| RS786204641 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS886043744 | Health Risk | Likely pathogenic | — |
| RS977397569 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1055204017 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, NPC1-related disorder |
| RS1057516462 | Health Risk | Pathogenic | Niemann-Pick disease, type C1, type C |