CCDC163P
Description
CCDC163P is a human protein that plays a critical role in the regulation of cellular functioning. It is encoded by the CCDC163P gene, located on chromosome 20. CCDC163P is a member of the coiled-coil domain containing protein family and is involved in various cellular processes, including cell division, cell growth, and signal transduction.
Associated Diseases
Mutations in the CCDC163P gene have been linked to several genetic disorders, including:
- Primary microcephaly: A condition characterized by an abnormally small head circumference due to impaired brain development.
- Microcephaly with chorioretinopathy and micropenis: A rare genetic syndrome involving microcephaly, eye abnormalities, and micropenis.
- Microcephaly with cutis laxa and severe intellectual disability: A severe neurodevelopmental disorder characterized by microcephaly, loose skin, and intellectual disability.
Did you Know ?
According to the National Organization for Rare Disorders, the prevalence of microcephaly with chorioretinopathy and micropenis is estimated to be 1 in 10 million people worldwide.
