| Gene Symbol |
PSENEN
|
| Entrez Gene |
55851
|
| Alt Symbol |
MDS033, MSTP064, PEN-2, PEN2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
presenilin enhancer gamma secretase subunit
|
| Other Description |
gamma-secretase subunit PEN-2|hematopoietic stem/progenitor cells protein MDS033|presenilin enhancer 2 homolog
|
| Swissprots |
Q9NZ42 B2R5L9
|
| Accessions |
Q9NZ42 AF220053 AAF67646 AK312233 BAG35166 BC009575 AAH09575 BE563017 BQ222622 BU934029 CB136623 DQ893095 ABM84021 DQ896368 ABM87367 NM_001281532 NP_001268461 NM_172341 NP_758844
|
| Function |
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity. {ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12763021}.
|
| Subcellular Location |
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.
|
| Tissue Specificity |
Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. {ECO:0000269|PubMed:12110170, ECO:0000269|PubMed:12740439}.
|
| Top Pathways |
Notch signaling pathway, Alzheimer's disease
|
