ADARB2
Adarb2: An Intriguing Gene Involved in Neurodevelopment and Beyond
Description:
Adarb2, also known as adenosine deaminase acting on RNA type 2, is a crucial gene that plays a vital role in RNA editing. This intricate process involves modifying specific adenosine bases in RNA molecules, altering their coding sequence and producing diverse protein isoforms from a single gene. Adarb2 is primarily responsible for editing RNA transcripts in the brain but also contributes to editing in other tissues.
Associated Diseases:
Mutations in the Adarb2 gene have been linked to a spectrum of neurodevelopmental disorders, including:
- Aicardi-Goutières Syndrome (AGS): A rare genetic condition characterized by microcephaly (small head size), developmental delays, and impaired immune function.
- Dyschromatosis Universalis Hereditaria (DUH): A skin disorder causing abnormal pigmentation and skin thickening.
- Myopathy with Hypogonadism and Sensorineural Hearing Loss: A condition characterized by muscle weakness, low testosterone levels, and hearing loss.
- Intellectual Disability: Adarb2 mutations have been associated with various degrees of intellectual disability.
Did you Know ?
Approximately 1 in 100,000 individuals have AGS, the most common disorder associated with Adarb2 mutations.
