ABCA5

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesABCA5, ABC13, EST90625, ATP binding cassette subfamily A member 5, HTC3
End69,327,244 bp[1]
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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
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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. 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

Mutations in ABCA5 cause excessive hair overgrowth.[6]

References

Further reading

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