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FLASH GENE

Symbol

ABCB11

contributors: mct/npt - updated : 26-05-2016

HGNC name	ATP-binding cassette, sub-family B (MDR/TAP), member 11
HGNC id	42

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PFIC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of NR1H4, NR0B2, SLC10A1 and ABCB11 was significantly up-regulated in the non-alcoholic steatohepatitis (NASH) in comparison with simple steatosis (SS) patients

Susceptibility

to intrahepatic cholestasis of pregnancy (ICP) to drug-induced cholestasis

Variant & Polymorphism other	V444A polymorphism is a significant risk factor for ICP(Dixon 2009)
	polylmorphisms increasing drug-induced cholestasis (Lang 2007)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS