DDX25
DDX25: A Gene Linked to Neurological Disorders
Description
DDX25 is a gene that encodes a protein involved in RNA metabolism. It plays a crucial role in various cellular processes, including:
- RNA splicing
- RNA editing
- Translation
- mRNA stability
Mutations in the DDX25 gene can disrupt these processes and lead to a range of neurological disorders.
Associated Diseases
Mutations in DDX25 have been linked to several neurological disorders, including:
- Aicardi-Goutières syndrome (AGS)
- Rett syndrome
- Infantile encephalopathy
- Autism spectrum disorder (ASD)
- Schizophrenia
AGS is the most common disorder associated with DDX25 mutations. It is a severe condition characterized by immune dysregulation, encephalopathy, and skin rashes.
Did you Know ?
Approximately 15% of AGS cases are caused by mutations in the DDX25 gene. This makes DDX25 one of the most common genetic causes of AGS.
