ABCB11 Gene Variation and Cholestatic Diseases / 实用儿科临床杂志

ABSTRACT

ABCB11 gene encodes bile salt export pump (BSEP).It is almost exclusively expressed in the canalicular microvilli of liver.It is the principal conveyor of bile acids from hepatocyte cytoplasm into bile canaliculus.It is clearly that BSEP defects can induce progressive familial intrahepatic cholestasis type 2 and benign recurrent intrahepatic cholestasis type 2.ABCB11 gene variation are also responsible for intrahepatic cholestasis of pregnancy,drug-induced cholestasis,primary sclerosis cholangitis and primary bile cirrhosis.This paper reviewed the association of ABCB11 gene variation and these diseases.