FAM208B
FAM208B: A Gene Associated with Neurodevelopmental Disorders
Description
FAM208B, also known as family with sequence similarity 208, member B, is a gene that encodes a protein involved in cellular processes crucial for brain development and function. Specifically, the FAM208B protein is localized to the mitochondria, where it plays a key role in mitochondrial respiration, energy production, and oxidative stress defense.
Associated Diseases
Mutations in the FAM208B gene have been linked to a range of neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Microcephaly (small head size)
- Movement disorders
- Epilepsy
Did you Know ?
Studies have found that mutations in FAM208B account for approximately 1-2% of cases of intellectual disability. This highlights the significant contribution of genetic factors to this condition.
