CCDC94
Understanding CCDC94: A Gene Associated with Rare Developmental Disorders
Description
CCDC94 (Coiled-Coil Domain Containing 94) is a gene that provides instructions for making a protein of the same name. This protein plays a crucial role in the development of the brain and nervous system. CCDC94 protein is involved in regulating cellular processes such as cell division, migration, and differentiation. Mutations in the CCDC94 gene can lead to developmental disorders affecting different parts of the body.
Associated Diseases
Mutations in CCDC94 have been linked to several rare genetic disorders, including:
- Joubert Syndrome: A genetic condition characterized by brain malformations, intellectual disability, and breathing problems.
- Retinal Dystrophy with or without Sensorineural Hearing Loss: A progressive disorder that affects vision and hearing.
- Mental Retardation, Torticollis, and Cerebellar Ataxia: A condition that causes intellectual disability, neck muscle contraction, and motor coordination difficulties.
- Brain Malformation with Microcephaly and Hypotonia: A rare condition that involves abnormal brain development, a small head size, and low muscle tone.
Did you Know ?
CCDC94 mutations are estimated to affect approximately 1 in 100,000 individuals worldwide. This rarity highlights the importance of targeted research and genetic testing for the accurate diagnosis and management of these disorders.
