RNASEH2C

RNASEH2C is a gene that encodes the Ribonuclease H2 subunit C protein in humans. This protein is a part of the Ribonuclease H family, which is responsible for the hydrolysis of RNA in DNA/RNA hybrids, playing a crucial role in DNA replication and repair.

Function

The RNASEH2C gene provides instructions for making a protein that is a part of a larger enzyme complex known as Ribonuclease H2. This complex is involved in the process of DNA replication and DNA repair. It helps to remove RNA molecules that are mistakenly incorporated into DNA strands, ensuring the stability and integrity of the DNA molecule.

Clinical Significance

Mutations in the RNASEH2C gene have been associated with Aicardi-Goutières syndrome, a rare genetic disorder that affects the brain, immune system, and skin. This syndrome is characterized by early onset of severe neurological symptoms, including encephalopathy, spasticity, and microcephaly.

See Also

• Ribonuclease H
• DNA replication
• DNA repair
• Aicardi-Goutières syndrome

References

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