| Entrez Gene ID |
351 (NCBI Gene) |
| Official Gene Symbol |
APP (GeneCards) |
| Number of variants in APP in this database |
7 (view all the variants) |
| Full name |
amyloid beta precursor protein |
| Band |
21q21.3 |
| Other IDs |
Vega:
OTTHUMG00000078438
OMIM:
104760
HGNC:
HGNC:620
Ensembl:
ENSG00000142192
|
| Other names |
AAA,
AD1,
PN2,
ABPP,
APPI,
CVAP,
ABETA,
PN-II,
preA4,
CTFgamma
|
| 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. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. 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, Aug 2014] |