PSN2

From Wikipedia, the free encyclopedia

Presenilin 2
Symbol(s):	PSEN2 AD4
Genetic data
Locus:	Chr. 1 q31-q42
Protein Structure/Function
Protein length:	467 (Amino Acids)
Database Links
Codes:	EntrezGene 5664, RefSeq NM_000447, UniProt 49810, Mendelian Inheritance in Man (OMIM) 600759

PSN2 is a human gene located on chromosome 1. Its product is the Presenilin 2 which is an integral membrane protein.

[edit] Function

In patients suffering from Alzheimer's disease (autosomal dominant hereditary), mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP) can be found. These mutations result in increased production of the longer form of amyloid-beta. Presenilin proteins are believed to regulate amyloid precursor protein processing through their effects on gamma-secretase, an enzyme that cleaves APP.

Mutations in this gene were first reported in 1995.

The gene has two isoforms.

[edit] References

• Rogaev E, Sherrington R, Rogaeva E, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T (1995). "Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.". Nature 376 (6543): 775-8. PMID 7651536.