PCDH11X
Description
The PCDH11X (protocadherin 11 X-linked) is a protein-coding gene located on chromosome X.
PCDH11X, or Protocadherin 11 X-linked, is a gene encoding a protein that belongs to the protocadherin family. This family is a subfamily of the cadherin superfamily, known for their role in cell-to-cell adhesion. The PCDH11X protein has 7 cadherin repeats in its extracellular domain, a transmembrane domain, and a cytoplasmic tail that distinguishes it from classical cadherins. The gene's location on the X chromosome makes it homologous to the Y chromosome gene PCDH11Y. Despite evolutionary changes, PCDH11Y remains the closest cadherin relative to PCDH11X. The protein is believed to be crucial for cell-to-cell recognition, a process vital for the segmental development and function of the central nervous system. Protocadherin activity is intricately linked to neuronal self-avoidance. Additionally, the protein plays a role in structural cell-to-cell adherence. Alternative splicing of the gene creates transcripts that encode isoforms with different cytoplasmic domains. A genome-wide association study linked PCDH11X to late-onset Alzheimer's disease, but further research on other populations has not confirmed this association. The gene's clinical significance remains unclear, and its role may vary across different populations.
PCDH11X is also known as PCDH-X, PCDH-Y, PCDH11, PCDH11Y, PCDH22, PCDHX, PPP1R119.
