ABCB6

(redirected from EST45597)

ABCB6

A gene on chromosome 2q36 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 mitochondrial function.

Molecular pathology
ABCB6 is a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.