ABCB11 - Wikipedia
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.
ABCB11 Gene - GeneCards | ABCBB Protein | ABCBB Antibody
2025年3月28日 · ABCB11 (ATP Binding Cassette Subfamily B Member 11) is a Protein Coding gene. Diseases associated with ABCB11 include Cholestasis, Progressive Familial …
ATP 结合盒亚家族 B 成员 11（ABCB11）基因 | MCE
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 …
Structures of human bile acid exporter ABCB11 reveal a transport ...
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 …
汤善宏教授团队：胆汁酸代谢过程中转运蛋白基因突变机制及临床 …
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 …
ABCB11 ATP binding cassette subfamily B member 11 [ (human)]
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 gene: MedlinePlus Genetics
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.
Structural basis of bile salt extrusion and small-molecule ... - Nature
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 …
ABCB11基因突变导致肝内胆汁淤积机制研究进展 - 中华实用儿科 …
ABCB11基因包括1个位于5′末端的非编码外显子和27个编码外显子，不同基因位点的突变对BSEP合成和功能的影响也不同。 ABCB11基因突变主要有错义突变、无义突变、缺失或插入 …
ABCB11 ATP binding cassette subfamily B member 11 - NIH …
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 …
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