ABCB4 gene has been observed progressively downregulated in human papillomavirus-positive neoplastic keratinocytes derived from uterine cervical preneoplastic lesions at different levels of malignancy.

2024年12月24日 · ABCB4 (ATP Binding Cassette Subfamily B Member 4) is a Protein Coding gene. Diseases associated with ABCB4 include Cholestasis, Progressive Familial Intrahepatic, 3 and Gallbladder Disease 1. Among its related pathways are Autodegradation of the E3 ubiquitin ligase COP1 and Transcriptional regulation of white adipocyte differentiation.

2020年3月1日 · ATP-binding cassette (ABC) subfamily B member 4 (ABCB4), also known as multidrug resistance protein 3 (MDR3), encoded by ABCB4, is involved in biliary phospholipid secretion, protecting hepatobiliary system from deleterious detergent and lithogenic properties of …

The ABCB4 gene (also known as MDR3) provides instructions for making a protein that helps move certain fats called phospholipids across the membranes of liver cells. Learn about this gene and related health conditions.

Adults with ABCB4 mutations may harbor a spectrum of cholestatic disease phenotypes and can progress to liver transplantation. We observed a distinct histological pattern which differs from classical biliary disease and describe two novel pathogenic ABCB4 variants.

Our findings suggest that ABCB4 is a frequently silenced gene in different cancers and it may act tumor suppressivly in lung cancer. Epigenetic mechanisms play an important role for initiating and maintaining memory effects on gene expression.

ABCB4 (MDR3) is a lipid translocator that moves phosphatidylcholine from the inner to outer leaflet of the canalicular membrane for extraction into the lumen by bile salts. Genetic mutations of ABCB4 lead to 3 distinct but related hepatobiliary diseases.

This review focuses on our current knowledge on the regulation of ABCB4 expression, trafficking and function, and presents recent advances in fundamental research with promising therapeutic perspectives.

ABCB4 mutation causing progressive familial intrahepatic cholestasis 3 in two brothers, and intrahepatic cholestasis of pregnancy in their mother is described. A mutant ABCB4 genotype is related to the clinical expression of cholestatic liver disease.

2019年12月23日 · ABCB4 is an ATP-binding cassette transporter that extrudes phosphatidylcholine into the bile canaliculi of the liver. Its dysfunction or inhibition by drugs can cause...