PCDH11X

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog (PCDH11Y), despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell–cell recognition essential for the segmental development and function of the central nervous system. Neuronal self-avoidance is intricately linked to protocadherin activity. It also plays a role in structural cell-to-cell adherence. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.

In a genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset Alzheimer's disease,{{cite journal | vauthors = Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP, Younkin SG, Younkin CS, Younkin LH, Bisceglio GD, Ertekin-Taner N, Crook JE, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG | title = Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease | journal = Nat. Genet. | volume = 41 | issue = 2 | pages = 192–8 |date=February 2009 | pmid = 19136949 | pmc = 2873177 | doi = 10.1038/ng.305 }} but other studies on different populations {{cite journal | vauthors = Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C | title = Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients | journal = J. Alzheimers Dis. | volume = 21 | issue = 2 | pages = 385–8 | year = 2010 | pmid = 20555150 | doi = 10.3233/JAD-2010-091516 }}{{cite journal | vauthors = Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA | title = PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility | journal = Psychiatr. Genet. | volume = 20 | issue = 6 | pages = 321–4 |date=December 2010 | pmid = 20523261 | pmc = 2964434 | doi = 10.1097/YPG.0b013e32833b635d }}{{cite journal | vauthors = Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L | title = Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population | journal = Brain Res. | volume = 1357 | pages = 152–6 |date=October 2010 | pmid = 20707987 | doi = 10.1016/j.brainres.2010.08.008 | s2cid = 12500978 }}{{cite journal | vauthors = Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E | title = Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease | journal = Brain Research | issue = 1383 | pages = 252–6 | year = 2011 | pmid = 21276771 | doi = 10.1016/j.brainres.2011.01.054 | volume=1383| s2cid = 6154815 | url = https://ria.asturias.es/RIA/bitstream/123456789/763/1/Archivo.pdf }} could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.

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