CCDC113

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CCDC113: A Comprehensive Guide to the Protein Implicated in Associated Diseases and Ongoing Research

Description

CCDC113 (Coiled-Coil Domain Containing 113) is a protein-coding gene located on chromosome 17 in humans. It encodes a protein primarily involved in DNA methylation and chromatin remodeling, essential processes for gene regulation and cellular differentiation.

Associated Diseases

Mutations in CCDC113 have been linked to several diseases, including:

• Intellectual Disability: Mutations in CCDC113 are the leading cause of a rare intellectual disability syndrome characterized by developmental delay, learning difficulties, and behavioral problems.
• Autism Spectrum Disorder (ASD): CCDC113 mutations have been identified in a small percentage of individuals with ASD, suggesting a potential role in the disorder's pathogenesis.
• Schizophrenia: Recent studies have implicated CCDC113 mutations in schizophrenia, possibly contributing to cognitive deficits and neuropsychiatric symptoms.
• Congenital Anomalies: CCDC113 mutations have been associated with congenital heart defects, cleft lip and palate, and other birth defects.

Did you Know ?

Approximately 0.05% of individuals with intellectual disability have mutations in CCDC113, making it one of the most common genetic causes of this condition.