UTP4 : UTP4 small subunit processome component
Description
The UTP4 gene, located on chromosome 1, encodes a protein known as uridine 5‘-triphosphate-3‘-phosphohydrolase 4. This enzyme plays a vital role in cellular processes, primarily the biosynthesis of nucleotides, the building blocks of DNA and RNA. UTP4 hydrolyzes uridine 5‘-triphosphate (UTP) into uridine 5‘-diphosphate (UDP), a key step in the synthesis of various essential molecules. Its activity is tightly regulated to maintain proper nucleotide levels and ensure efficient cellular function.
Associated Diseases
- Neurodevelopmental disorders: Mutations in the UTP4 gene have been associated with intellectual disability, autism spectrum disorder, and epilepsy.
- Immune system dysregulation: UTP4 deficiency may lead to impaired immune responses and increased susceptibility to infections.
- Cancer: Aberrant UTP4 expression has been observed in certain types of cancer, suggesting its potential role in tumor development and progression.
Did you know?
UTP4 is a highly conserved gene across different species, highlighting its essential role in fundamental cellular processes.
