ABCA5

ATP-binding cassette, sub-family A (ABC1), member 5 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
Orthologs
SpeciesHumanMouse
Entrez

23461

217265

Ensembl

ENSG00000154265

ENSMUSG00000018800

UniProt

Q8WWZ7

Q8K448

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

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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000154265 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000018800 - Ensembl, 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. "Entrez Gene: ATP-binding cassette, sub-family A (ABC1), member 5". Retrieved 2014-05-19.
  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.

Further reading

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


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