Article
ABCB4 disease: Many faces of one gene deficiency.
Annals of hepatology - 1 Jan 2020
Sticova Eva, Jirsa Milan
Abstract excerpt
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 bile. ABCB4 mutations altering canalicular ABCB4 protein function and expression may have variable clinical presentation and predispose to several...
Topics
- ATP Binding Cassette Transporter, Subfamily B
- Age of Onset
- Alleles
- Bile Duct Diseases
- Chemical and Drug Induced Liver Injury
- Cholagogues and Choleretics
- Cholelithiasis
- Cholestasis
- Cholestasis, Intrahepatic
- Gallbladder Diseases
- Humans
- Liver Cirrhosis, Biliary
- Liver Diseases
- Parenteral Nutrition
- Pregnancy Complications
- Ursodeoxycholic Acid
- Female
- Male
