ABCB4
Encyclopedia
Multidrug resistance protein 3 is a protein
that in humans is encoded by the ABCB4 gene
. ABCB4 is associated with progressive familial intrahepatic cholestasis
type 3.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the ABCB4 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. ABCB4 is associated with progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis...
type 3.