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 …

Dec 24, 2024 · 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.

The ABCB11 gene located on chromosome 2q24 encodes an ATP-binding cassette (ABC) transporter, known as BSEP in human liver. BSEP is selectively expressed in the hepatocyte canalicular membrane and is the major exporter of bile salts against extreme concentration gradients, in an ATP-dependent manner ( 5 ).

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

With this study, >100 ABCB11 mutations are now identified. Immunohistochemically detectable BSEP is typically absent, or much reduced, in severe disease. BSEP deficiency confers risk of hepatobiliary malignancy.

Jan 18, 2022 · 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...

Nov 10, 2023 · 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...

The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP), which is found in the liver. Bile salts are a component of bile that help the body digest fats. Bile salts are produced by liver cells and then transported out …

Apr 16, 2024 · 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 ...