ABCA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ABCA5 , ABC13, EST90625, ATP binding cassette subfamily A member 5, HTC3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 612503 MGI: 2386607 HomoloGene: 10263 GeneCards: ABCA5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene. [5]
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecule across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008].
Mutations in ABCA5 cause excessive hair overgrowth. [6]
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 G member 1 is a protein that in humans is encoded by the ABCG1 gene. It is a homolog of the well-known Drosophila gene white.
Canalicular multispecific organic anion transporter 2 is a protein that in humans is encoded by the ABCC3 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 A member 2 is a protein that in humans is encoded by the ABCA2 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 B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 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.
Multidrug resistance-associated protein 7 is a protein that in humans is encoded by the ABCC10 gene.
ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.
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 A member 8 is a protein that in humans is encoded by the ABCA8 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.