RNASEH2A gene
The RNASEH2A gene provides instructions for creating a subunit of the RNase H2 complex, which is essential for DNA replication, repair, and immune system regulation.
Normal Function
The RNASEH2A 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, a chemical cousin of DNA. Specifically, 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. Additionally, it 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 RNASEH2A 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 variants likely produce a dysfunctional RNase H2 complex, which may disrupt transcription, DNA replication, DNA repair, or cell death (apoptosis).
Such 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, large subunit
- ribonuclease H2, subunit A
- ribonuclease HI large subunit
- ribonuclease HI subunit A
- RNase H(35)
- RNase H2 subunit A
- RNase HI large subunit
- RNASEHI
- RNH2A_HUMAN
- RNHIA
- RNHL