PCDHAC2
The Intriguing World of the PCDHAC2 Gene
Description
The PCDHAC2 gene, located on chromosome X, holds the blueprint for a protein called protocadherin alpha-2. This protein plays a crucial role in the development and function of the central nervous system (CNS), particularly in the formation of neural connections. PCDHAC2 is essential for proper brain development, synaptic plasticity, and cognition.
Associated Diseases
Mutations in the PCDHAC2 gene have been linked to several neurological disorders, including:
- Autism Spectrum Disorder (ASD): ASD is a complex developmental disorder characterized by difficulties with social interaction, communication, and repetitive behaviors. Studies have identified mutations in PCDHAC2 as a contributing factor in some cases of ASD.
- Schizophrenia: Schizophrenia is a severe mental illness characterized by hallucinations, delusions, and disorganized thinking. Research suggests that alterations in PCDHAC2 expression or function may be involved in the development of schizophrenia.
- Intellectual Disability (ID): ID refers to significant impairments in intellectual and adaptive functioning. Mutations in PCDHAC2 have been associated with various forms of ID, including syndromic ID and non-syndromic ID.
Did you Know ?
Approximately 1 in 500 individuals worldwide carries a mutation in the PCDHAC2 gene. This highlights the gene‘s prevalence and the potential impact it has on neurological health.
