CCDC23


ccdc23

Description:

ccdc23, also known as coiled-coil domain containing 23, is a protein that is involved in various cellular processes, including cell cycle regulation, DNA damage response, and apoptosis (programmed cell death). It is encoded by the ccdc23 gene, located on chromosome 1 in humans.

Associated Diseases:

Mutations in the ccdc23 gene have been linked to several diseases, including:

  • Microcephaly: A condition characterized by an abnormally small head size and intellectual disability.
  • Congenital heart defects: Structural abnormalities in the heart present at birth.
  • Developmental delay: A global delay in reaching developmental milestones, such as walking or talking.
  • Short stature: A condition in which an individual is significantly shorter than average.
  • Craniofacial anomalies: Abnormalities in the shape or structure of the head and face.

Did you Know ?

Approximately 1 in 100,000 individuals worldwide are estimated to have a mutation in the ccdc23 gene.



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.