Home Page |
Orphanet | References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 03-03-2015 |
Symbol | NPC1 |
Location | 18q11.2 |
Name | Niemann-Pick disease type C1 |
Corresponding gene | NPC1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Prevalence | . responsible for 95p100 of the cases (PMID: 21075073) |
Function/system disorder | metabolism/lysosomal |
neurology | |
Type | disease |
Gene product |
Name | regulator of cholesterol trafficking (NPC1), approximatively 100 mutations identified and a possible influence of the haplotypic background or expression of missense mutation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments | |
---|---|---|---|---|
various types | only three occuring quite frequently, I1061T, juvenile form, G992R, P1007A, leading to sphingomyelin accumulation with cholesterol, to concomitant acid sphingomyelinase deficiency and to an identical subcellular distribution of both lipids |
Remark(s) |
|