China Journal of Leprosy and Skin Diseases ›› 2018, Vol. 34 ›› Issue (5): 310-313.

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Correlation between γ-secretase gene and disease phenotype

LI Yuwei, GAO Min   

  1. Institute of Dematology & Deparmtent of Dematology, the First Affiliated Hospital of Anhui Medical University,Hefei 230032,China
  • Online:2018-05-15 Published:2018-12-10
  • Contact: GAO Min,E-mail:ahhngm@163.com

Abstract: γ-secretase is a kind of macromolecular membrane-integrated protease complex, including four subunits presenilin (PS), Nicastrin, (NCSTN), anterior-pharynx-defective-1(APH-1) and presenilin enhancer-2 (PEN-2). It can be used to cleave a variety of type I transmembrane proteins, such as amyloid precursor protein (APP), Notch receptor, N-cadherin and vascular endothelial growth factor receptor 1 (VEGFR-1). It has been found that γ-secretase affects the genes transcription and expression by affecting Notch signaling pathway and is involved in some diseases, such as suppurative sweat gland inflammation, Alzheimer's disease, cardiomyopathy,tumor and dementia. This paper summarizes the classification, localization, function and relevance of the γ-secretase gene.

Key words: γ-secretase, Notch receptors, Hidradenitis suppurativa, Alzheimer's disease.