Protocadherin 11 X-linked (PCDH11X)

Protocadherin 11 X-linked is a neuronal cell-adhesion molecule belonging to the protocadherin family within the cadherin superfamily. It features an extracellular domain with 7 cadherin repeats, a transmembrane region, and a cytoplasmic tail that differs from classical cadherins. Protocadherin 11 X-linked is widely expressed in the brain, playing a critical role in neural development by mediating cell–cell recognition, particularly important for the segmental organization and function of the central nervous system. Genetic alterations in this gene have been associated with neurodevelopmental and neuropsychiatric conditions, including developmental dyslexia, intellectual disability, and possibly Alzheimer’s disease; however, there is no consensus on its use as a therapeutic target or a disease biomarker. The gene has a human-specific Y chromosome paralog (PCDH11Y) that displays accelerated evolution and may have contributed to primate brain evolution and the neural substrates for language.

Other names

PCDH11YPCDHXPCDH-XPCDH-YPCDH11PPP1R119