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]

Dec 24, 2024 · ABCB11 (ATP Binding Cassette Subfamily B Member 11) is a Protein Coding gene. Diseases associated with ABCB11 include Cholestasis, Progressive Familial …

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 …

ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate …

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 …

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 …

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 …

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

Apr 16, 2024 · Clinical resource with information about ABCB11, A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium., Benign recurrent intrahepatic …