CCDC153
Title: CCDC153: A Gene Linked to a Rare Neurological Disorder
Description:
CCDC153 (Coiled-Coil Domain Containing 153) is a gene that encodes a protein involved in the regulation of cellular trafficking and signaling pathways. Mutations in CCDC153 have been linked to a rare neurological disorder known as dystonia with intellectual disability.
Associated Diseases:
- Dystonia with Intellectual Disability: A neurological disorder characterized by involuntary muscle contractions and spasms, accompanied by intellectual disability and developmental delays.
- Other Neurological Disorders: Mutations in CCDC153 have also been associated with other neurological disorders, including autism spectrum disorder and spinocerebellar ataxia type 11.
Did you Know ?
- Approximately 1 in 1 million people worldwide are affected by dystonia with intellectual disability caused by CCDC153 mutations.
