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.
