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.

单词	psen2
释义	EncyclopediaSeePS2 PSEN2 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.
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