PCDH11X

Protocadherin 11 X-linked, also known as PCDH11X, is a is_associated_with::protein which in humans is encoded by the PCDH11X is_associated_with::gene.

Function
This gene belongs to the is_associated_with::protocadherin gene family, a subfamily of the is_associated_with::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 (is_associated_with::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 is_associated_with::central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.

Clinical significance
In a is_associated_with::genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset is_associated_with::Alzheimer's disease, but other studies on different populations   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.