Cholesterol transporter ABCA5 is a protein that in humans is encoded by the ABCA5 gene.[5]

ABCA5
Identifiers
AliasesABCA5, ABC13, EST90625, ATP binding cassette subfamily A member 5, HTC3
External IDsOMIM: 612503; MGI: 2386607; HomoloGene: 10263; GeneCards: ABCA5; OMA:ABCA5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_172232
NM_018672

NM_147219

RefSeq (protein)

NP_061142
NP_758424

NP_671752

Location (UCSC)Chr 17: 69.24 – 69.33 MbChr 11: 110.16 – 110.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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

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Mutations in ABCA5 cause excessive hair overgrowth.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000154265Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018800Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "ABCA5 ATP binding cassette subfamily A member 5 [ Homo sapiens (human) ]". Retrieved 2024-09-29.
  6. ^ DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM (2014). "Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth". PLOS Genetics. 10 (5): e1004333. doi:10.1371/journal.pgen.1004333. PMC 4022463. PMID 24831815.
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Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.