ABCA5
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Cholesterol transporter ABCA5 is a protein that in humans is encoded by the ABCA5 gene.[1]
Function
[edit | edit source]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].
Clinical significance
[edit | edit source]Mutations in ABCA5 cause excessive hair overgrowth.[2]
References
[edit | edit source]External links
[edit | edit source]- Human ABCA5 genome location and ABCA5 gene details page in the UCSC Genome Browser.
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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