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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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
	System Type Disorder Pubmed metabolism lipid cholesterol useful drug target for the treatment of hypercholesterolemia and sitosterolemia diabete metabolic 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