CCDC132
Understanding CDC132: A Key Regulator in Cell Growth and Development
Description:
CDC132 is a protein that plays a crucial role in cell division, ensuring the proper separation of chromosomes during mitosis and meiosis. It belongs to a family of proteins known as cohesins, which function as glue-like molecules that hold sister chromatids together until the right moment for separation.
Associated Diseases:
Mutations in the CDC132 gene have been linked to several genetic disorders, including:
- Cornelia de Lange Syndrome (CdLS): A rare condition characterized by distinctive facial features, developmental delays, intellectual disability, and growth abnormalities.
- Microcephaly with Seckel Syndrome: A congenital disorder characterized by an unusually small head size, intellectual disability, and skeletal deformities.
- Roberts Syndrome: A rare chromosomal breakage syndrome that affects many body systems, including the limbs, head, and central nervous system.
Did you Know ?
In individuals with Cornelia de Lange Syndrome, mutations in the CDC132 gene account for approximately 50% of cases.
