PSEN2

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PSEN2

A gene on chromosome 1q31-q42 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, or in linking chromatin to the nuclear membrane; it may also play a role in sorting proteins in the cytoplasm.

Molecular pathology
Defects in PSEN2 are a cause of Alzheimer disease type 4 and cardiomyopathy dilated type 1V.
References in periodicals archive ?
Ghulam Shabbir Dayo PS-2 Sukkur cum Shikarpur, Agha Imtiaz Ali PS-9 Shikarpur cum Larkana, Mir Hassan PS-12 Shikarpur-II, Imdad Hussain Choliani PS-41 Larkana, Abdul Rasheed Arain PS-45 Hyderabad-I, Mohammad Saleem Solangi PS-52 Tando Allahyar, Pir Masoom Jan PS-53 Tando Mohammad Khan, Mohammad Asif Rajput PS-64 Mirpurkhas, Raees Habibullah Rind PS-73 Jamshoro cum Dadu, Syed Zafar Ali Shah PS-74 Dadu, Dr.