SCLY
The scly Gene: A Comprehensive Exploration
Description
The scly gene, located on the X chromosome, plays a crucial role in the development and maintenance of the nervous system. It encodes a protein known as the SCLY protein, which is involved in several cellular processes, including neuronal migration, differentiation, and survival.
Associated Diseases
Mutations in the scly gene are associated with several neurological disorders, including:
- Rett syndrome: A devastating developmental disorder that affects girls almost exclusively, causing severe intellectual disability, motor skill impairment, and seizures.
- Childhood-onset neurodegeneration with brain iron accumulation (NBIA): A rare genetic condition characterized by progressive neurological decline, including movement difficulties, cognitive impairment, and speech problems.
- Intellectual disability: Mild to severe intellectual disability can be a symptom of scly gene mutations.
Did you Know ?
Approximately 1 in 10,000 females are affected by Rett syndrome, making it the most common female-specific neurodevelopmental disorder.
