Entrez 21 | Ensembl ENSG00000167972 | |
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Aliases ABCA3, ATP-binding cassette, sub-family A (ABC1), member 3, ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP binding cassette subfamily A member 3 External IDs MGI: 1351617 HomoloGene: 37437 GeneCards: ABCA3 | ||
ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.
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.
Clinical significance
Mutations in ABCA3 are associated to cataract-microcornea syndrome .
It is associated with Surfactant metabolism dysfunction type 3.