ABCA5

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ABCA5
Identifiers
Aliases ABCA5, ABC13, EST90625, ATP binding cassette subfamily A member 5
External IDs MGI: 2386607 HomoloGene: 10263 GeneCards: ABCA5
Orthologs
Species Human Mouse
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 Mb Chr 11: 110.27 – 110.34 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene.[3]

Function[edit]

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].

Clinical significance[edit]

Mutations in ABCA5 cause excessive hair overgrowth .[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: ATP-binding cassette, sub-family A (ABC1), member 5". Retrieved 2014-05-19. 
  4. ^ 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. PMC 4022463Freely accessible. PMID 24831815. doi:10.1371/journal.pgen.1004333. 

External links[edit]

Further reading[edit]

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