| Description | This group of aspartic peptidases belong to MEROPS peptidase family A22 (presenilin family, clan AD): subfamily A22A, the type example being presenilin 1 from Homo sapiens (Human).Presenilins are polytopic transmembrane (TM) proteins, mutations in which are associated with the occurrence of early-onset familial Alzheimer's disease, a rare form of the disease that results from a single-gene mutation [ , ]. The physiological functions of presenilins are unknown, but they may be related to developmental signalling, apoptotic signal transduction, or processing of selected proteins, such as the beta-amyloid precursor protein(beta-APP). There are a number of subtypes which belong to this presenilin family. That presenilin homologues have been identified in species that do not have an Alzhemier's disease correlate suggests that they may have functions unrelated to the disease, homologues having been identified in Mus musculus (Mouse), Drosophila melanogaster, Caenorhabditis elegans [] and other members of the eukarya including plants.Presenilin-1 (MEROPS identifer A22.001) has been identified as the gamma-secretase that performs one of the cleavages that leads to the release of the amyloid-beta peptide from its precursor protein. Processing of the amyloid beta precursor requires an initial cleavage by beta-secretase (now identified as BACE-1), which releases the extracellular domain, followed by cleavages by presenilin-1 to release the amyloid-beta peptide and an intracellular domain [ ]. Released amyloid-beta peptide can form the plaques that are depoited in the brains of patients suffering Alzheimer's disease []. Presenilin-1 is a transmembrane peptidase in which the active site is buried in the membrane [, ]. Native presenilin-1 is processed in the large loop between the sixth and seventh transmembrane regions to form a two-chain protein, with a larger N-terminal domain [, ]. The heterodimer forms a complex with three other membrane proteins, nicastrin, Aph-1 and Pen-2 []. In addition to the amyloid beta protein, presenilin-1 also cleaves Notch, various cadherins, Notch ligands Delta and Jagged, and other proteins [, ]. | Name | Peptidase A22A, presenilin 1 |
| Short Name | Pept_A22A_PS1 | Type | Family |
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