FLJ33360
Understanding FLJ33360: A Gene Linked to Neurological Disorders
Description
FLJ33360, also known as coiled-coil domain-containing protein 1 (CCDC1), is a gene that encodes a protein involved in various cellular processes. It plays a role in cellular growth, differentiation, and apoptosis, and has been implicated in the development of several neurological disorders.
Associated Diseases
Mutations in the FLJ33360 gene have been linked to the following diseases:
- Charcot-Marie-Tooth Disease Type 4C (CMT4C): A genetic disorder that affects the nerves in the arms and legs, causing muscle weakness and sensory loss.
- Epilepsy with Intellectual Disability: A rare form of epilepsy associated with intellectual disability and developmental delays.
- Cerebral Palsy: A group of disorders that affect the movement and coordination of the body.
- Autism Spectrum Disorder (ASD): A neurodevelopmental disorder characterized by difficulties in social interactions and communication.
Did you Know ?
- Mutations in the FLJ33360 gene account for approximately 1-2% of cases of CMT4C.
