ABCB7

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ABCB7
Identifiers
Aliases ABCB7, AA517758, AU019072, Abc7, ASAT, Atm1p, EST140535, ATP binding cassette subfamily B member 7
External IDs MGI: 109533 HomoloGene: 3175 GeneCards: 22
RNA expression pattern
PBB GE ABCB7 209620 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004299
NM_001271696
NM_001271697
NM_001271698
NM_001271699

NM_009592

RefSeq (protein)

NP_001258625.1
NP_001258626.1
NP_001258627.1
NP_004290.2
NP_001258627.1

NP_033722.1

Location (UCSC) Chr X: 75.05 – 75.16 Mb Chr X: 104.28 – 104.41 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.