TMEM189-UBE2V1
Unveiling the Role of the TMEM189-UBE2V1 Gene: A Comprehensive Exploration
Description
The TMEM189-UBE2V1 gene encodes a protein that plays a crucial role in the ubiquitin-proteasome system (UPS). The UPS is a cellular machinery responsible for degrading and recycling proteins within cells. The TMEM189-UBE2V1 protein acts as a ubiquitin ligase, an enzyme that attaches ubiquitin molecules to target proteins, marking them for degradation.
Associated Diseases
Mutations in the TMEM189-UBE2V1 gene have been linked to several diseases, including:
- Angelman Syndrome: A neurodevelopmental disorder characterized by intellectual disability, speech impairments, and seizures.
- Prader-Willi Syndrome: A genetic disorder that affects appetite, growth, and development.
- Schizophrenia: A mental health disorder involving altered perceptions, thoughts, and behaviors.
- Autism Spectrum Disorder (ASD): A group of developmental disorders affecting social interaction and communication.
Did you Know ?
According to the National Institute of Health, Angelman Syndrome, primarily caused by TMEM189-UBE2V1 mutations, affects approximately 1 in 15,000 individuals worldwide.
