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FLASH GENE

Symbol

ABCB4

contributors: mct - updated : 28-06-2015

HGNC name	ATP-binding cassette, sub-family B (MDR/TAP), member 4
HGNC id	45

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PFIC3 , LPAC

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       cause intrahepatic cholestasis of pregnancy, with normal gamma-GT and may be associated with stillbirths and gallstone disease constitutional germinal mutation       splicing mutations cause intrahepatic cholestasis of pregnancy in women with high gamma-glutamyl transpeptidase (Tavian 2009)

Susceptibility

to drug-induced cholestasis to higher BMI and triglyceride and cholesterol levels to to drug-induced cholestatic liver injury

Variant & Polymorphism SNP , other	polylmorphisms increasing drug-induced cholestasis (Lang 2007)
	SNP C.504C > T associated with higher BMI and triglyceride and cholesterol levels (Acalovschi 2009)
	g.-1584C>T and g.-1014A>G, may be associated with a susceptibility. to drug-induced cholestatic liver injury

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS