Gene: PCDH11X

Alternate names for this Gene: PCDH-X|PCDH-Y|PCDH11|PCDH11Y|PCDH22|PCDHX|PPP1R119

Gene Summary: 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, 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. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: X

Location in Chromosome : Xq21.31

Description of this Gene: protocadherin 11 X-linked

Type of Gene: protein-coding

rs2573905 in PCDH11X gene and Alzheimer's Disease PMID 19136949 2009 Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.

PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

rs2524594 in PCDH11X gene and Malignant neoplasm of testis PMID 19483682 2009 Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.