APH1A, Official Symbol APH1Aprovided by HGNC Official Full Name aph-1 homolog A, gamma-secretase subunitprovided by HGNC Primary source HGNC:HGNC:29509 See related Ensembl:ENSG00000117362 MIM:607629; AllianceGenome:HGNC:29509 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APH-1; APH-1A; CGI-78; 6530402N02Rik 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] Expression Ubiquitous expression in thyroid (RPKM 47.4), colon (RPKM 37.4) and 25 other tissues See more Orthologs mouse all