Biology:ABCB7

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]

Function

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.

Clinical significance

Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.[2]

Interactions

ABCB7 has been shown to interact with Ferrochelatase.[3]

See also

References

  1. "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics 41 (2): 275–8. July 1997. doi:10.1006/geno.1997.4658. PMID 9143506. 
  2. 2.0 2.1 "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22. 
  3. "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood 101 (8): 3274–80. April 2003. doi:10.1182/blood-2002-04-1212. PMID 12480705. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.