PCDH11Y
The pcdh11y Gene: A Key Player in Nervous System Development and Disease
Description
The pcdh11y gene encodes a protein called protocadherin-11y, which is a member of the cadherin superfamily of cell adhesion molecules. Cadherins are essential for establishing and maintaining cell-cell connections, playing a crucial role in tissue formation and function.
pcdh11y is located on the X chromosome and is specifically expressed in the nervous system, primarily in the developing brain. It is involved in the formation and refinement of neuronal connections, contributing to the intricate network that allows neural communication.
Associated Diseases
Mutations in the pcdh11y gene have been linked to several neurological disorders, including:
- X-linked intellectual disability (XLID): This condition is characterized by impaired intellectual functioning, behavioral difficulties, and often physical abnormalities.
- Epilepsy: Seizures are a common symptom of pcdh11y-related disorders, particularly in individuals with XLID.
- Autism spectrum disorder (ASD): pcdh11y mutations have been associated with an increased risk of ASD, although the exact role of the gene in this condition is not yet fully understood.
- Schizophrenia: Some studies have suggested an association between pcdh11y mutations and an increased susceptibility to schizophrenia, a severe mental illness characterized by hallucinations, delusions, and cognitive impairments.
Did you Know ?
- Mutations in the pcdh11y gene are estimated to affect approximately 1 in 20,000 male individuals, making it a relatively rare genetic disorder.
