RNASEH2C

RNASEH2C is a protein-coding gene in humans. It encodes a subunit of the RNase H2 complex. The RNase H2 complex is a heterotrimeric enzyme composed of three subunits: RNASEH2A, RNASEH2B, and RNASEH2C. This complex functions to remove ribonucleotides that have been misincorporated into DNA during DNA replication. These misincorporations can arise due to the inherent error rate of DNA polymerases and can lead to genomic instability if not corrected.

The RNASEH2C subunit is believed to play a role in stabilizing the RNase H2 complex and is essential for its proper function. Mutations in the RNASEH2C gene are associated with Aicardi-Goutières syndrome (AGS), a rare, inherited neurological disorder that affects the brain and immune system. AGS is characterized by early-onset encephalopathy, intracranial calcifications, and elevated levels of interferon-alpha in the cerebrospinal fluid. The severity of AGS can vary depending on the specific mutation in RNASEH2C and other AGS-related genes. The loss of function of the RNase H2 complex, caused by mutations in RNASEH2C, leads to the accumulation of ribonucleotides in DNA, which triggers an autoimmune response mimicking a viral infection, resulting in the neurological damage characteristic of AGS.