Entrez gene ID | | 351 |
Official gene symbol | | APP |
Full name | | amyloid beta (A4) precursor protein |
Aliases | | ,AAA,ABETA,ABPP,AD1,APPI,CTFgamma,CVAP,PN2, |
Gene summary | | This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 21 Locus: 21q21.2|21q21.3 |
Gene position | | 27543138 - 27252861 Map Viewer |
Gene orientation | | minus |
Gene size | | 290278 bp |
Gene sequence |
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OMIM ID | | 104760 |
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