ABCA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ABCA5 , ABC13, EST90625, ATP binding cassette subfamily A member 5, HTC3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 612503; MGI: 2386607; HomoloGene: 10263; GeneCards: ABCA5; OMA:ABCA5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cholesterol transporter ABCA5 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. This encoded protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABCA family members on 17q24. 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]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.