ABCB11

(redirected from PFIC-2)

ABCB11

A gene on chromosome 2q24 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance and is major canalicular bile salt export pump
Molecular pathology ABCB11 mutations cause a type of progressive
familial intrahepatic cholestasis of early (infancy) onset.
References in periodicals archive ?
42,43) Disorders caused by absence or severe dysfunction of these proteins are now known as PFIC-1 or ATP8B1 disease, PFIC-2 or ABCB11 disease, and PFIC-3 or ABCB4 disease, respectively.
48) Furthermore, BRIC is caused by mutations in ATP8B1 and ABCB11, genes also mutated in PFIC-1 and PFIC-2.