GENETIC ENCYCLOPEDIA
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gene: ABCA3

id21
symbolABCA3
organismHomo sapiens
full nameATP binding cassette subfamily A member 3
summaryThe 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. [provided by RefSeq, Jul 2008]
variant-disease

NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro) AND not provided

NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) AND Surfactant metabolism dysfunction, pulmonary, 3

NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) AND not specified

NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) AND not specified

NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) AND not specified

... 231 more


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