| ncRNA Symbol: | PSENEN | | Full Name: | presenilin enhancer, gamma-secretase subunit | | Category: | mRNA | | Synonyms: | ACNINV2|MDS033|MSTP064|PEN-2|PEN2 | | Chromosome: | chr19 | | Strand: | + | | Coordinate: | | Start Site(bp): | 35745114 | End Site(bp): | 35747519 |
| | 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. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] | | External Links: | |
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