ABCA5

ATP-binding cassette, sub-family A (ABC1), member 5
Identifiers
Symbols ABCA5 ; ABC13; EST90625
External IDs OMIM: 612503 HomoloGene: 10263 GeneCards: ABCA5 Gene
Orthologs
Species Human Mouse
Entrez 23461 217265
Ensembl ENSG00000154265 ENSMUSG00000018800
UniProt Q8WWZ7 Q8K448
RefSeq (mRNA) NM_018672 NM_147219
RefSeq (protein) NP_061142 NP_671752
Location (UCSC) Chr 17:
69.24 – 69.33 Mb
Chr 11:
110.27 – 110.34 Mb
PubMed search

ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene.[1]

Function

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

Mutations in ABCA5 cause excessive hair overgrowth .[2]

References

  1. "Entrez Gene: ATP-binding cassette, sub-family A (ABC1), member 5". Retrieved 2014-05-19.
  2. 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.

Further reading

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

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