Presenilin

  • OMIM: 104300
  • UniProt: P49810

Presenilins are a family of transmembrane proteins, PEN -2 and APH -1 form the gamma -secretase complex with nicastrin. Vertebrates have two presenilin genes: PSEN1 ( in humans on chromosome 14), which contains the genetic information for presenilin 1 (PS -1) and PSEN2 ( chromosome 1 in humans ) for presenilin 2 (PS -2). Both genes are conserved between species, between the gene of the rat and the human, there is little difference. Also in the nematode Caenorhabditis elegans, there are two genes, sel-12 and hop-1 called that resemble the Präsenilinen and probably have the same function.

Presenilins are cleaved in the alpha helical region of the cytoplasmic loops into a larger and a smaller N-terminal C-terminal piece. Two pieces forming a part of the gamma -secretase complex. Cleavage of presenilin 1 is prevented by a mutation resulting in the loss of exon 9. Due to this mutation, the presenilin loss of function. It is also known that mutations causing familial ( genetic ) Alzheimer disease in the presenilin genes. This manifests itself much earlier than the non-hereditary variant.

The presenilins are involved in the cleavage of the Notch protein, which plays an important role in embryonic development.

Protein isoform Human Genome Organisation MEROPS Notch signaling pathway
659478
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