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.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.