ABCA3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.[1][2]
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.[2]
Clinical significance
Mutations in ABCA3 are associated to cataract-microcornea syndrome .[3]
It is associated with Surfactant metabolism dysfunction type 3.
See also
References
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<references />, or <references group="..." />Further reading
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External links
- ABCA3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- ABCA3 human gene location in the UCSC Genome Browser.
- ABCA3 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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