Target intelligence / Profile preview

Ribonuclease H2 subunit C (RNASEH2C)

Target
RNASEH2C
Molecular classification
Enzyme, Nuclease, Retroviral integrase superfamily member[4]
01

Overview

Ribonuclease H2 subunit C (RNASEH2C) is one of the three components that form the human RNase H2 heterotrimeric complex, an essential nuclear enzyme involved in the degradation of RNA/DNA hybrids and the removal of single ribonucleotides incorporated into genomic DNA during replication. This enzymatic activity helps maintain genome stability by preventing the accumulation of ribonucleotides in DNA, which can cause genomic instability if left unrepaired. The complex is also implicated in DNA replication, error repair, and the suppression of inappropriate immune activation by removing nucleic acid structures that could otherwise trigger innate immune responses. Mutations in RNASEH2C result in a loss of RNase H2 function and cause Aicardi-Goutières syndrome, a rare genetic disorder characterized by neurological dysfunction and autoimmunity due to the intracellular accumulation of DNA/RNA fragments that stimulate immune activation[1][2][3][4][5].

Other names
Ribonuclease H2, subunit CRibonuclease HI subunit CRNase H1 small subunitRNase H2 subunit CRNH2C_HUMAN[2][3]
02

Mechanism of action

Hydrolytic cleavage of RNA in RNA/DNA hybrids[4], Removal of single ribonucleotides in DNA

03

Biological functions

Degradation of RNA/DNA hybridsRemoval of ribonucleotides misincorporated in genomic DNADNA replicationDNA repairRegulation of immune responseMaintenance of genome stability[1][2][3][4][5]
04

Disease associations

Aicardi-Goutières syndromeAutoimmune disorder/auto-inflammationPotential contribution to other DNA repair-related diseases[2][3][5]
05

Safety considerations

Loss of function mutations implicated in severe pediatric neuro-inflammatory disorder (Aicardi-Goutières syndrome)[2][3][5]
06

Biomarkers

Mutational analysis for Aicardi-Goutières syndrome[2][3]

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