| ABCB7 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ABCB7 , AA517758, AU019072, Abc7, ASAT, Atm1p, EST140535, ATP binding cassette subfamily B member 7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300135 MGI: 109533 HomoloGene: 3175 GeneCards: ABCB7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene. [5] [6]
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 implicated in X-linked sideroblastic anemia with ataxia. [6]
ABCB7 has been shown to interact with Ferrochelatase. [7]
ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.
Transporter associated with antigen processing 1 (TAP1) is a protein that in humans is encoded by the TAP1 gene. A member of the ATP-binding cassette transporter family, it is also known as ABCB2.
ATP-binding cassette super-family G member 2 is a protein that in humans is encoded by the ABCG2 gene. ABCG2 has also been designated as CDw338. ABCG2 is a translocation protein used to actively pump drugs and other compounds against their concentration gradient using the bonding and hydrolysis of ATP as the energy source.
ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.
ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.
ATP-binding cassette sub-family B member 9 is a protein that in humans is encoded by the ABCB9 gene.
ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.
ATP-binding cassette sub-family F member 2 is a protein that in humans is encoded by the ABCF2 gene.
ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.
ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is encoded by the ABCD2 gene.
ATP-binding cassette sub-family F member 1 is a protein that in humans is encoded by the ABCF1 gene.
TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.
ATP-binding cassette sub-family G member 4 is a protein that in humans is encoded by the ABCG4 gene.
ATP-binding cassette sub-family B member 8, mitochondrial is a protein that in humans is encoded by the ABCB8 gene.
Putative ATP-binding cassette transporter sub-family C member 13 is a protein that is not present in humans. In humans, ABCC13 is a pseudogene.
Multidrug resistance-associated protein 9 is a protein that in humans is encoded by the ABCC12 gene.
ATP-binding cassette sub-family A member 9 is a protein that in humans is encoded by the ABCA9 gene.
Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase.
ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene.
X-linked sideroblastic anemia and spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either doesn't progress or does so very slowly. Additional findings include dysarthria, tremors and eye movement anomalies. It is caused by X-linked recessive mutations in the ABCB7 gene in chromosome X. Only 4 families with the disorder have been described in medical literature.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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