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. The protein essentially flips the phospholipids from the inside to the outside of the cells. The protein then releases the phospholipids into a digestive fluid called bile. Outside the liver cells, in the bile duct, phospholipids attach (bind) to bile acids, which are the component of bile that digests fats. Large amounts of bile acids are potentially harmful to cells. When bile acids are bound to phospholipids, they are less toxic.
Other Names
ABC21; ATP-binding cassette, sub-family B (MDR/TAP), member 4; ATP-binding cassette, subfamily B, member 4; GBD1; ICP3; MDR3; multidrug resistance 3; P-glycoprotein 3; PFIC-3; PGY3
Related Genetics Topics
- Progressive familial intrahepatic cholestasis — MedlinePlus Genetics
- Intrahepatic cholestasis of pregnancy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5244
- OMIM: 171060
- OMIM: 600803
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
