ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.[5][6]

ABCA3
Identifiers
AliasesABCA3, ATP-binding cassette, sub-family A (ABC1), member 3, ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP binding cassette subfamily A member 3
External IDsOMIM: 601615; MGI: 1351617; HomoloGene: 37437; GeneCards: ABCA3; OMA:ABCA3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001089

NM_001039581
NM_013855

RefSeq (protein)

NP_001080

NP_001034670
NP_038883

Location (UCSC)Chr 16: 2.28 – 2.34 MbChr 17: 24.57 – 24.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.[6]

Clinical significance

Mutations in ABCA3 are associated to cataract-microcornea syndrome.[7]

It is associated with Surfactant metabolism dysfunction type 3.

See also

References

Further reading

External links

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


🔥 Top keywords: Main PageSpecial:SearchWikipedia:Featured picturesYasukeHarrison ButkerRobert FicoBridgertonCleopatraDeaths in 2024Joyce VincentXXXTentacionHank AdamsIt Ends with UsYouTubeNew Caledonia2024 Indian general electionHeeramandiDarren DutchyshenSlovakiaKingdom of the Planet of the ApesAttempted assassination of Robert FicoLawrence WongBaby ReindeerXXX: Return of Xander CageThelma HoustonFuriosa: A Mad Max SagaMegalopolis (film)Richard GaddKepler's SupernovaWicked (musical)Sunil ChhetriXXX (2002 film)Ashley MadisonAnya Taylor-JoyPlanet of the ApesNava MauYoung SheldonPortal:Current eventsX-Men '97