ABCB7 Antibody – Rabbit Polyclonal

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. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

ABCB7: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. Defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia (ASAT). ASAT is a recessive disorder characterized by an infantile to early childhood onset of nonprogressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: Xq13.3

Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion

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

Biological Process: cellular iron ion homeostasis; heme transport; transmembrane transport; transport

Disease: Anemia, Sideroblastic, And Spinocerebellar Ataxia