ABCB7

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ATP-binding cassette, sub-family B (MDR/TAP), member 7
Identifiers
Symbols ABCB7 ; ABC7; ASAT; Atm1p; EST140535
External IDs OMIM300135 HomoloGene3175 GeneCards: ABCB7 Gene
RNA expression pattern
PBB GE ABCB7 209620 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 22 11306
Ensembl ENSG00000131269 ENSMUSG00000031333
UniProt O75027 Q61102
RefSeq (mRNA) NM_001271696 NM_009592
RefSeq (protein) NP_001258625 NP_033722
Location (UCSC) Chr X:
74.27 – 74.38 Mb
Chr X:
104.28 – 104.41 Mb
PubMed search [1] [2]

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

Function[edit]

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[edit]

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

Interactions[edit]

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

See also[edit]

References[edit]

  1. ^ Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (July 1997). "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506. 
  2. ^ a b "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7". 
  3. ^ Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (April 2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705. 

Further reading[edit]

External links[edit]

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