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Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
Telephone Numbers
Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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Additional Contact Details
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PSENEN / PEN-2
presenilin enhancer gamma secretase subunit
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.
| Gene Name: | presenilin enhancer gamma secretase subunit |
| Synonyms: | PSENEN, Gamma-secretase subunit PEN-2, MSTP064, Presenilin enhancer protein 2, MDS033, PEN-2, PEN2 |
| Target Sequences: | NM_172341 NP_758844.1 Q9NZ42 |
Publications (1)
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