ATP-binding cassette, sub-family B member 11 (ABCB11), also known as the bile salt export pump (BSEP), is a protein which in humans is encoded by the ABCB11 gene. [5] The product of the ABCB11 gene is an ABC transporter named BSEP …

2024年12月24日 · ABCB11 (ATP Binding Cassette Subfamily B Member 11) is a Protein Coding gene. Diseases associated with ABCB11 include Cholestasis, Progressive Familial Intrahepatic, 2 and Cholestasis, Benign Recurrent Intrahepatic, 2. Among its related pathways are Bile acid and bile salt metabolism and Statin Pathway - Generalized, Pharmacokinetics.

The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP), which is found in the liver. Learn about this gene and related health conditions.

Sequencing of the ABCB11 gene revealed two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. Mutations ending ABCB11 transcription appear linked, through hepatocellular necrosis and fibrosis, to worse outcome

该基因的突变会导致一种进行性家族性肝内胆汁淤积症，这是一组从婴儿早期就患有严重胆汁淤积性肝病的遗传性疾病。 [RefSeq 提供，2008 年 7 月] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.

2023年3月11日 · 如进行性家族性肝内胆汁淤积症(Progressive familial intrahepatic cholestasis, PFIC)是一组异质性的常染色体隐性遗传病，胆汁酸合成和运输缺陷为其特征，常发展为肝硬化。本病的三种经典表型PFIC1、PFIC2和PFIC3分别由ATP8B1、ABCB11和ABCB4突变导致。 2 回肠末端胆汁酸转运异常

2023年11月10日 · BSEP (ABCB11) is an ATP-binding cassette transporter that is expressed in hepatocytes and extrudes bile salts into the canaliculi of the liver. BSEP dysfunction, caused by mutations or induced by...

2022年1月18日 · ABCB11 is localized to the canalicular membrane and is the primary transporter responsible for the continuous excretion of bile acids from hepatocytes to the bile duct. 5 In clinic, mutations in...

abcb11基因突变主要有错义突变、无义突变、缺失或插入和剪切位点突变。 这些突变无疑会对BSEP的合成、折叠、定位及降解等过程产生影响，最终使得肝细胞胆管膜上的BSEP蛋白含量减少或转运功能缺失。

2024年4月16日 · Clinical resource with information about ABCB11, A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium., Benign recurrent intrahepatic cholestasis type 2, Common variants at 10 genomic loci influence hemoglobin A₁ (C) levels via glycemic and nonglycemic pathways., Discovery and refinement of loci a...