ABCB8 Human Recombinant Protein

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ABCB8: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. [provided by RefSeq, Jul 2008]

Protein type: Hydrolase; Transporter, ABC family; Membrane protein, integral; Mitochondrial; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 7q36

Cellular Component: mitochondrial envelope; mitochondrion; membrane; mitochondrial inner membrane; integral to membrane; nucleolus; ATP-binding cassette (ABC) transporter complex; nucleus

Molecular Function: transporter activity; ATPase activity, coupled to transmembrane movement of substances; ATP binding

Biological Process: transport; metabolic process; transmembrane transport