CCDC79
cddc79: An Overview
Description
Ccdc79 (coiled-coil domain containing 79) is a protein-coding gene located on chromosome 16q22.1. It encodes a 594-amino acid protein that plays a crucial role in various cellular processes, including cell adhesion, migration, and proliferation. Cddc79 contains several functional domains, such as a coiled-coil domain, a pleckstrin homology (PH) domain, and a C2 domain.
Associated Diseases
Mutations in the cddc79 gene have been linked to several genetic disorders, including:
- Joubert Syndrome: A rare neurodevelopmental disorder characterized by intellectual disability, ataxia, eye movements abnormalities, and a distinctive brain malformation known as the "molar tooth sign."
- Nephronophthisis: A kidney disease that leads to progressive kidney failure and end-stage renal disease.
- Meckel-Gruber Syndrome: A lethal genetic disorder that affects multiple organs, including the brain, kidneys, limbs, and heart.
- Coloboma of the Macula: A rare eye condition that involves a hole or defect in the macula, the central part of the retina.
Did you Know ?
According to a study published in the journal "Pediatric Research," mutations in the cddc79 gene are responsible for approximately 10% of cases of Joubert Syndrome.
