PCDH11X

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Protocadherin 11 X-linked
Identifiers
Symbols PCDH11X ; PCDH-X; PCDH11; PCDHX; PPP1R119
External IDs OMIM300246 MGI2442849 HomoloGene13194 GeneCards: PCDH11X Gene
RNA expression pattern
PBB GE PCDH11X 211227 s at tn.png
PBB GE PCDH11X 217049 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 27328 245578
Ensembl ENSG00000099715 ENSMUSG00000034755
UniProt Q9BZA7 A0JNT1
RefSeq (mRNA) NM_001168360 NM_001081385
RefSeq (protein) NP_001161832 NP_001258738
Location (UCSC) Chr X:
91.03 – 91.88 Mb
Chr X:
120.29 – 120.91 Mb
PubMed search [1] [2]

Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.[1][2]

Function[edit]

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 (PCDHY), 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. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.[1]

Clinical significance[edit]

In a genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset Alzheimer's disease,[3] but other studies on different populations [4] [5][6] [7] 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.

References[edit]

  1. ^ a b "Entrez Gene: PCDH11X protocadherin 11 X-linked". 
  2. ^ Yoshida K, Sugano S (December 1999). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456. 
  3. ^ 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 (February 2009). "Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease". Nat. Genet. 41 (2): 192–8. doi:10.1038/ng.305. PMC 2873177. PMID 19136949. 
  4. ^ 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 (2010). "Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients". J. Alzheimers Dis. 21 (2): 385–8. doi:10.3233/JAD-2010-091516. PMID 20555150. 
  5. ^ Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA (December 2010). "PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility". Psychiatr. Genet. 20 (6): 321–4. doi:10.1097/YPG.0b013e32833b635d. PMC 2964434. PMID 20523261. 
  6. ^ Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L (October 2010). "Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population". Brain Res. 1357: 152–6. doi:10.1016/j.brainres.2010.08.008. PMID 20707987. 
  7. ^ Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E (2011). "Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease". Brain Research (1383): 252–6. doi:10.1016/j.brainres.2011.01.054. PMID 21276771. 


Further reading[edit]