Entrez gene ID | | 55851 |
Official gene symbol | | PSENEN |
Full name | | presenilin enhancer 2 homolog (C. elegans) |
Aliases | | ,MDS033,MSTP064,PEN-2,PEN2, |
Gene summary | | Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.12 |
Gene position | | 36236494 - 36237903 Map Viewer |
Gene orientation | | plus |
Gene size | | 1410 bp |
Gene sequence |
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OMIM ID | | 607632 |
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