UNC119
Description
UNC119, also known as ‘ubiquitin-like protein modifier 1‘, is a crucial gene involved in the intricate processes of neuronal development and function. Its primary role lies in regulating the trafficking and stability of key proteins within neurons, particularly those involved in synaptic transmission and neuronal signaling. The gene encodes a protein that interacts with a range of proteins, influencing their localization, degradation, and ultimately, their functional impact on neuronal activity.
Associated Diseases
- Neurodevelopmental Disorders: UNC119 mutations have been linked to a spectrum of neurodevelopmental disorders, including intellectual disability, epilepsy, and autism spectrum disorders.
- Neurodegenerative Diseases: Dysregulation of UNC119 function has been implicated in the pathogenesis of certain neurodegenerative disorders, such as Alzheimer‘s disease and Parkinson‘s disease.
- Schizophrenia: Research suggests a potential link between variations in the UNC119 gene and an increased susceptibility to schizophrenia.
Did you know?
UNC119‘s name originates from its discovery in the nematode worm Caenorhabditis elegans, where it was initially associated with the uncoordinated movement phenotype.
