PSEN1

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PSEN1

A gene on chromosome 14q24.3 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, and in linking chromatin to the nuclear membrane. PSEN1 stimulates cell–cell adhesion by associating with the E-cadherin/catenin complex; it cleaves E-cadherin during apoptosis or calcium influx, promoting the disassembly of the E-cadherin/catenin complex and increases the pool of cytoplasmic beta-catenin, thus downregulating Wnt signalling. It may play a role in haematopoiesis.

Molecular pathology
Defects in PSEN1 cause of Alzheimer disease type 3, frontotemporal dementia, cardiomyopathy dilated type 1U, and familial acne inversa type 3.
References in periodicals archive ?
Also among the top prices was Messrs Roberts, Derwin Fawr, Bryncir, who topped at PS1,280 for a pair of 20m Lim steers.
79; 869kg Char to PS1,416 (163); 865kg Char cow to PS1,435 (166); 670kg U48m Sal hfrs to PS1,005 (150); 1,010kg U72m Lim bulls to PS1,585 (157); 710kg Lim bull to PS1,185.
Charolais PS1,065 High Parkfoot, PS1,040 (x3), PS1,010 (x3), PS970 The Nook, PS910 High Parkfoot, PS910 (x2), PS900 Shankbridge End.
Top prices: Hoggets (ppk) -JS Davies & Son, Derwen Deg; Hoggets (PS120ph) -ST & EM Roberts, Caerfamaeth; Heifers (ppk & PS1,302ph) -HJ & FJ Williams, Maes Gadfa; Steers (ppk & PS1,157ph) -RG & GM Williams, Disgarth Uchaf.
Angus x steers - PS1,120, PS1,055, PS1,030 & PS1,025 Meldon Lane House.
10 cattle over PS1,509; 25 cattle over PS1,400; 16 cattle over 221p; 61 cattle over 200p.