CCDC176
Title: CCDC176: A Protein at the Heart of Developmental and Neurological Disorders
Description
CCDC176 is a protein that plays a vital role in cell division and development. It belongs to the coiled-coil domain-containing protein family and is characterized by its unique structural features. CCDC176 is primarily located in the cytoplasm and is involved in various cellular processes, including cytoskeletal organization, cell cycle progression, and DNA repair.
Associated Diseases
Mutations in the CCDC176 gene have been linked to several developmental and neurological disorders, including:
- Microcephaly: A condition characterized by an abnormally small head size.
- Intellectual disability: Impaired cognitive function and difficulties with learning and problem-solving.
- Autism spectrum disorder (ASD): A neurodevelopmental condition marked by social and communication challenges.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
- Schizophrenia: A severe mental illness that affects thinking, emotions, and behavior.
Did you Know ?
Approximately 1 in 12,500 individuals worldwide suffer from a CCDC176-related disorder. This highlights the significant impact of CCDC176 mutations on human health.
