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FLASH GENE
Symbol NPC1L1 contributors: mct - updated : 25-10-2012
HGNC name NPC1 (Niemann-Pick disease, type C1, gene)-like 1
HGNC id 7898
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
  • to poor LDL-C response to treatment with ezetimibe co-administrated with statin
  • to low absorption of cholesterol
  • to hypercholesterolemia
  • Variant & Polymorphism SNP , other
  • associated to poor LDL-C response to treatment with ezetimibe co-administrated with statin
  • variants associated with reduced sterol absorption and plasma low-density lipoprotein levels
  • NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismlipidcholesterol
    useful drug target for the treatment of hypercholesterolemia and sitosterolemia
    diabetemetabolic syndrom 
    NPC1L1 inhibition has been shown to have beneficial effects on components of the metabolic syndrome, such as obesity, insulin resistance, and fatty liver, in addition to atherosclerosis
    ANIMAL & CELL MODELS
    NPC1L1-deficient mice show dramatic reductions in dietary cholesterol absorption