ABCC2

(redirected from ATP-binding cassette subfamily C member 2)

ABCC2

A gene on chromosome 10q24 that encodes a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes, many of which are involved in multidrug resistance. ABCC2 is found in the canalicular (apical) part of hepatocytes and involved in biliary transport. Its substrates include chemotherapeutics (e.g., vinblastine) and thus contributes to drug resistance in humans.
 
Molecular pathology
ABCC2 is mutated in patients with Dubin-Johnson syndrome.
References in periodicals archive ?
Gilbert syndrome (GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 [micro]mol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)-glucuronosyltransferase gene ( UGT1A1 ).[sup][1] Dubin-Johnson syndrome (DJS, MIM #237500) is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in the ATP-binding cassette subfamily C member 2 gene ( ABCC2 ).[sup][2] This report described the unusual features encountered in a Chinese family that was genetically confirmed to have both DJS and GS.
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