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Definition The gene on chromosome 1q31-q42 that encodes presenilin 2, a probable catalytic subunit (OMIM: 600759, UniProtKB: P49810) 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 signaling and gene expression or in linking chromatin to the nuclear membrane and play a role in sorting proteins in the cytoplasm.
Molecular pathology Defects in PSEN2 cause:
• Alzheimer disease 4 (OMIM:606889)
• Cardiomyopathy—dilated—1V (OMIM:613697)
Synonyms Presenilin 2 (Alzheimer disease 4), AD4, STM2, CMD1V, PS2, AD3L, EC 3.4.23.-, AD3LP, PSNL2, AD5, EC 3.4.23, E5-1