ABCB11 Gene Variation and Cholestatic Diseases
- VernacularTitle:ABCB11基因变异与淤胆性疾病
- Author:
li-yan, LIU
;
qi-rong, ZHU
;
jian-she, WANG
- Publication Type:Journal Article
- Keywords:
ABCB11gene;
variation;
bile salt export pump;
cholestasis
- From:Journal of Applied Clinical Pediatrics
2006;0(19):-
- CountryChina
- Language:Chinese
-
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.
