CCDC34
CCDC34: A Comprehensive Guide
Description
CCDC34, also known as coiled-coil domain containing 34, is a protein-coding gene that plays a crucial role in the regulation of cell growth and division. This gene is located on chromosome 8q24.13 and encodes a protein that contains a coiled-coil domain. Coiled-coil domains are structural motifs found in many proteins and are involved in protein-protein interactions.
Associated Diseases
Mutations in the CCDC34 gene have been associated with several genetic disorders, including:
- Intellectual disability: CCDC34 mutations have been linked to intellectual disability, particularly in individuals with microcephaly (small head size).
- Autism spectrum disorder (ASD): Studies have shown that CCDC34 mutations are more common in individuals with ASD than in the general population.
- Congenital heart defects: Mutations in CCDC34 have also been associated with an increased risk of congenital heart defects, such as atrial septal defects (holes in the heart wall).
- Other developmental disorders: CCDC34 mutations have been implicated in a range of other developmental disorders, including language impairments, motor delays, and vision problems.
Did you Know ?
Approximately 1 in 10,000 individuals is estimated to have a mutation in the CCDC34 gene. These mutations can vary in severity, with some causing significant developmental problems and others having milder effects.
