pen-2 protein; presenilin enhancer protein 2; gamma-secretase subunit pen-2 (PSENEN)
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Function
- part of APP gamma-secretase complex
- Pen-2 is required for endoproteolytic processing of presenilin & conferring gamma-secretase activity
Structure
belongs to the PEN-2 family
Compartment
- endoplasmic reticulum membrane
- Golgi stack membrane
- predominantly located in the endoplasmic reticulum & in the cis-Golgi
Expression
- widely expressed
- expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart & brain
Pathology
- one of 3 components of APP gamma-secretase complex in which haploinsufficiency is associated with hidradenitis suppurativa
More general terms
Component of
References
- ↑ Takasugi N, Tomita T, Hayashi I, Tsuruoka M, Niimura M, Takahashi Y, Thinakaran G, Iwatsubo T. The role of presenilin cofactors in the gamma-secretase complex. Nature. 2003 Mar 27;422(6930):438-41. Epub 2003 Mar 16. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12660785
- ↑ UniProt http://www.uniprot.org/uniprot/Q9NZ42.html