$VAR1 = undef;
Summary for peptidase A22.002: presenilin 2
Names | |
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MEROPS Name | presenilin 2 |
Other names | PS2, PSEN2 g.p. (Homo sapiens) |
Domain architecture |
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MEROPS Classification | |
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Classification | Clan AD >> Subclan (none) >> Family A22 >> Subfamily A >> A22.002 |
Holotype | presenilin 2 (Homo sapiens), Uniprot accession P49810 (peptidase unit: 22-448), MERNUM MER0005223 |
History | Identifier created: MEROPS 3.30 (20 July 1999) |
Activity | |||
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Catalytic type | Aspartic | ||
NC-IUBMB | Not yet included in IUBMB recommendations. | ||
Activity status | human: active (Kimberly et al., 2002) mouse: active (Esler et al., 2002) | ||
Structure | Catalytic residues in presenilin-1 were investigated by by Wrigley et al. (2004). | ||
Knockout | Conditional double knockout mice lacking presenilin 1 and presenilin 2 show impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration (Saura et al., 2004). | ||
Pharmaceutical relevance | Presenilin 2 is apparently a component of an Alzheimer"s gamma-secretase that, although less active than the presenilin 1-dependent secretase, may nevertheless make presenilin 2 a drug target (Lai et al., 2003). | ||
Pathways | KEGG | Alzheimer's disease | |
KEGG | Notch signaling pathway | ||
Other databases | WIKIPEDIA | http://en.wikipedia.org/wiki/Presenilin_2 |
Human genetics | ||||||
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Gene symbol | Locus | Megabases | Ensembl | Entrez gene | Gene Cards | OMIM |
PSEN2 | 1q31-q42 | ENSG00000143801 | 5664 | PSEN2 | 600759 | |
Mouse genetics | ||||||
Gene symbol | Position | Megabases | Ensembl | Entrez gene | MGI | |
Psen2 | 1:H4 | ENSMUSG00000010609 | 19165 | MGI:109284 |