ABCB7

(redirected from ASAT OTTHUMP00000235628 ABC7 OTTHUMP00000235673)

ABCB7

A gene on chromosome Xq13.3 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance as well as antigen presentation, and thought to play a role in metal homeostasis.
 
Molecular pathology
ABCB7 mutations have been linked to X-linked sideroblastic anaemia with ataxia.