ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein (ABCB7 ABC7)

Function

• 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

Structure

• homodimer or heterodimer (putative)
• belongs to the ABC transporter family, heavy Metal importer (TC 3.A.1.210) subfamily
• contains 1 ABC transmembrane type-1 domain
• contains 1 ABC transporter domain

Compartment

mitochondrial inner membrane

Alternative splicing

named isoforms=2

Pathology

• defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia

More general terms

• ATP-binding cassette sub-family B (ABC transporter-B, ABCB)
• mitochondrial protein

Additional terms

• sideroblastic anemia with spinocerebellar ataxia

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:22
• OMIM: https://mirror.omim.org/entry/300135
• OMIM: https://mirror.omim.org/entry/301310
• UniProt: http://www.uniprot.org/uniprot/O75027.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=22