一种编码肝脏特异性ABC转运蛋白的基因在进行性家族性肝内胆汁淤积症中发生突变。
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
作者信息
Strautnieks S S, Bull L N, Knisely A S, Kocoshis S A, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner M S, Kagalwalla A F, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer N B, Gardiner R M, Thompson R J
机构信息
Department of Paediatrics, University College London Medical School, UK.
出版信息
Nat Genet. 1998 Nov;20(3):233-8. doi: 10.1038/3034.
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) and 18q. The phenotype of the PFIC2-linked group is consistent with defective bile acid transport at the hepatocyte canalicular membrane. The PFIC2 gene has now been identified by mutations in a positional candidate, BSEP, which encodes a liver-specific ATP-binding cassette (ABC) transporter, sister of p-glycoprotein (SPGP). The product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro. These data provide evidence that SPGP is the human bile salt export pump (BSEP).
进行性家族性肝内胆汁淤积症（PFIC）是一组遗传性疾病，自婴儿早期起就会导致严重的胆汁淤积性肝病。以血清胆固醇和γ-谷氨酰转肽酶（γGT）水平正常为特征的一个亚组在基因上具有异质性，其基因座位于2号染色体（PFIC2）和18号染色体上。与PFIC2相关的这一组的表型与肝细胞胆小管膜上胆汁酸转运缺陷一致。PFIC2基因现已通过定位候选基因BSEP中的突变得以鉴定，BSEP编码一种肝脏特异性ATP结合盒（ABC）转运蛋白，即P-糖蛋白的姐妹蛋白（SPGP）。已证明直系同源大鼠基因的产物在体外是一种有效的胆汁酸转运蛋白。这些数据提供了证据，表明SPGP就是人类胆汁盐输出泵（BSEP）。
Zotero 插件