APH1A
APH1A gamma secretase subunit
6530402N02Rik, APH-1, APH-1A, CGI-78
Human APH1A (51107), Mouse Aph1a (226548), Rat Aph1a (365872), chicken APH1A (769986), dog APH1A (483181), domestic cat APH1A (101083193), cow APH1A (539247), domestic guinea pig Aph1a (100728852), naked mole-rat Aph1a (101717558), sheep APH1A (101103438)
- Human(51107) Summary: This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
- Mouse(226548) anterior pharynx defective 1a homolog (C. elegans)
- Rat(365872) APH1A gamma secretase subunit
- chicken(769986) anterior pharynx defective 1 homolog A (C. elegans)
- dog(483181) anterior pharynx defective 1 homolog A (C. elegans)
- domestic cat(101083193) anterior pharynx defective 1 homolog A (C. elegans)
- cow(539247) anterior pharynx defective 1 homolog A (C. elegans)
- domestic guinea pig(100728852) APH1A gamma secretase subunit
- naked mole-rat(101717558) APH1A gamma secretase subunit
- sheep(101103438) anterior pharynx defective 1 homolog A (C. elegans)
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