FEATURES

FAMILY

DESCRIPTION

Also known as MITOS_HUMAN, ABCB8, MABC1, MITOSUR. ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity). The mitochondrial potassium channel (mitoK(ATP)) is composed of 4 subunits of CCDC51/MITOK and 4 subunits of ABCB8/MITOSUR (Probable). Interacts with C10orf88/PAAT (PubMed:25063848). Interacts with NRP1; NRP1 regulates ABCB8/MITOSUR protein levels in mitochondria (PubMed:30623799).

EXTERNAL LINKS

ABCB8

Mutations

Mutation(s) distribution

Mutations table