ADAD1
Description
The ADAD1 gene, located on chromosome 19, provides instructions for making a protein called Adaptor Protein, containing an ADAR domain, 1. This protein plays a crucial role in the ubiquitin-proteasome system (UPS), a cellular machinery responsible for breaking down and recycling damaged or unnecessary proteins. ADAD1 acts as an adaptor protein, bridging between the E3 ubiquitin ligases and their target proteins, facilitating their ubiquitination and subsequent degradation by the proteasome. This process is essential for maintaining cellular homeostasis and proper function. Mutations in the ADAD1 gene can disrupt this delicate balance, leading to the accumulation of misfolded or damaged proteins and various health problems.
Associated Diseases
- Neurodevelopmental disorders
- Intellectual disability
- Epilepsy
- Cerebellar ataxia
- Spastic paraplegia
- Microcephaly
Did you know?
ADAD1 gene is highly expressed in the brain, suggesting its importance in neuronal development and function.
