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RNASEH2C gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RNASEH2C gene

The RNASEH2C gene encodes a subunit of the RNase H2 complex, which is critical for processing RNA-DNA hybrids and maintaining genomic stability.

Normal Function

The RNASEH2C gene provides instructions for making one part (subunit) of a group of proteins called the RNase H2 complex. This complex is a ribonuclease, an enzyme that helps break down molecules containing RNA. In particular, the RNase H2 complex helps break down RNA-DNA hybrids—molecules made of one strand of RNA and one strand of DNA—which are formed during DNA replication and are found in all cells.

The RNase H2 complex is also thought to be involved in DNA replication and error repair. It likely plays an important role in the immune system by removing unnecessary pieces of DNA that might otherwise trigger an immune response.

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

Variants (mutations) in the RNASEH2C gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. These mutations likely produce a dysfunctional RNase H2 complex, which may disrupt transcription, DNA replication, DNA repair, or cell death (apoptosis).

These disruptions are thought to lead to the accumulation of unneeded DNA and RNA in cells. These fragments may be mistaken for the genetic material of viral invaders, triggering immune system reactions that cause the signs and symptoms of Aicardi-Goutières syndrome.

Other Names for This Gene

  • ribonuclease H2, subunit C
  • ribonuclease HI subunit C
  • RNase H1 small subunit
  • RNase H2 subunit C
  • RNH2C_HUMAN

Frequently Asked Questions

Children with a RNASEH2C mutation often show very early developmental delays, seizures, or a persistent skin rash that looks like a mild eczema or purpuric spots. They may also have an enlarged liver or spleen and abnormal brain imaging showing white‑matter changes. If these signs appear before age two, a genetic evaluation is recommended.
The most reliable method is targeted next‑generation sequencing of the RNASEH2C gene, usually as part of a panel for inherited interferonopathies. If a variant is found, a second‑line test such as Sanger sequencing or a copy‑number analysis may be done to confirm the result.
There is no cure, but many patients benefit from anti‑inflammatory drugs such as corticosteroids or biologics that block interferon signaling (e.g., JAK inhibitors). Regular monitoring of blood counts, liver enzymes, and neurodevelopmental milestones is essential to adjust therapy.
RNASEH2C mutations are inherited in an autosomal recessive pattern. If both parents carry a pathogenic variant, each pregnancy has a 25 % chance of producing an affected child. Genetic counseling can provide carrier testing, discuss pre‑implantation genetic diagnosis, and offer prenatal testing options such as chorionic villus sampling or amniocentesis.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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