HRH1
Human RNase H1 (hRNase H1) is an enzyme that plays a crucial role in DNA replication and repair. It specifically cleaves the RNA strand of RNA-DNA hybrid molecules, leaving the DNA strand intact. This enzymatic activity is essential for the removal of primers during DNA synthesis and the correction of mismatched nucleotides.
hRNase H1 is a highly conserved protein found in all eukaryotes. It consists of a single catalytic domain with a characteristic four-helix bundle structure. The enzyme is primarily located in the nucleus, where it associates with various DNA polymerase complexes.
Mutations in the hRNase H1 gene have been linked to several human diseases, including:
- Aicardi-Goutières syndrome (AGS): A rare genetic disorder characterized by inflammation of the brain and spinal cord. AGS is caused by mutations that lead to reduced or absent hRNase H1 activity.
- Cerebral microangiopathy with calcifications and cysts (CMCC): A rare neurodegenerative disorder characterized by deposits of calcium and cysts in the brain's small blood vessels. CMCC is associated with mutations in the hRNase H1 gene.
- Infantile onset spinocerebellar ataxia (IOSCA): A rare neurodegenerative disorder characterized by progressive loss of coordination and speech difficulties. IOSCA is caused by mutations in the hRNase H1 gene.
Did you Know ?
- Approximately 1 in 100,000 individuals worldwide is affected by AGS, the most common disease associated with hRNase H1 mutations.
