PCDHGB6

PCDHHB6: A Gene with Diverse Functions and Disease Implications

Description:

PCDHHB6 (Protocadherin-B6) is a gene that encodes a protein with a crucial role in brain development and immune function. It belongs to the cadherin superfamily of proteins, which play a significant part in cell adhesion and communication.

Associated Diseases:

Mutations in the PCDHHB6 gene have been linked to several neurodevelopmental and immunological disorders, including:

Autism Spectrum Disorder (ASD): Studies have found strong associations between PCDHHB6 variants and individuals with ASD. These variants may disrupt the gene's function, leading to developmental difficulties.
Schizophrenia: Genetic research has implicated PCDHHB6 variants in the pathogenesis of schizophrenia, a mental illness characterized by delusions, hallucinations, and disorganized behavior.
Epilepsy: Certain PCDHHB6 mutations have been linked to increased susceptibility to epilepsy, a neurological disorder involving recurrent seizures.
Primary Immunodeficiency: Mutations in PCDHHB6 can cause a rare immune dysfunction called IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome). IPEX is characterized by a deficiency in regulatory T cells, leading to immune dysregulation.

Did you Know ?

Research studies have estimated that PCDHHB6 variants account for approximately 1% of cases of ASD in males. This highlights the potential significance of this gene in neurodevelopmental disorders.