Meyahealth
HomeGeneticsGeneRNASEH2B gene
Back to Gene
RNASEH2B gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RNASEH2B gene

The RNASEH2B gene provides instructions for a subunit of the RNase H2 complex, which is essential for DNA replication and error repair.

Normal Function

The RNASEH2B gene provides instructions for one subunit of the RNase H2 complex. This complex is a ribonuclease, an enzyme that breaks down RNA. Specifically, it targets RNA-DNA hybrids—molecules consisting of one strand of RNA and one strand of DNA—which are formed during DNA replication. The complex is also thought to be involved in DNA error repair and the immune system, where it removes unnecessary DNA fragments that could otherwise trigger an immune response.

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

Variants in the RNASEH2B gene have been identified in individuals with Aicardi-Goutières syndrome, a disorder characterized by severe brain dysfunction (encephalopathy), skin lesions, and other health issues.

Mutations in this gene likely produce a dysfunctional RNase H2 complex. When this complex fails to function properly, it may disrupt critical processes such as:

  • Transcription
  • DNA replication
  • DNA repair
  • Cell death (apoptosis)

These disruptions are thought to lead to the accumulation of unneeded DNA and RNA fragments within cells. The immune system may mistake these fragments for viral genetic material, triggering an inflammatory response that causes the symptoms of Aicardi-Goutières syndrome.

Other Names for This Gene

  • ribonuclease H2, subunit B
  • ribonuclease HI subunit B
  • RNase H2 subunit B
  • RNH2B_HUMAN

Frequently Asked Questions

RNASEH2B encodes a subunit of the RNase H2 complex that removes RNA‑DNA hybrids during DNA replication and repair. When RNASEH2B is defective, these hybrids accumulate, leading to DNA damage and the presence of abnormal nucleic‑acid fragments. The innate immune system mistakenly interprets these fragments as viral RNA, triggering chronic interferon‑mediated inflammation that damages the brain, skin, and other organs, producing the characteristic AGS features.
There is no cure, but early multidisciplinary care improves outcomes. Baseline neuroimaging (MRI), ophthalmologic exam, and developmental assessments should be performed within the first months. Monitor for seizures, liver dysfunction, and skin lesions. Anti‑interferon therapies (e.g., JAK inhibitors) are being studied and may be offered in specialized centers. Regular follow‑up with a pediatric neurologist and clinical immunologist is recommended.
Each pregnancy carries a 25 % chance of an affected child (both parents are carriers), a 50 % chance the child will be an asymptomatic carrier, and a 25 % chance the child will inherit two normal copies. Prenatal diagnostic options include chorionic villus sampling or amniocentesis with targeted RNASEH2B sequencing, and pre‑implantation genetic testing is available for IVF cycles.
RNASEH2B‑related AGS follows an autosomal‑recessive inheritance; carriers (heterozygotes) are typically asymptomatic and do not require medical surveillance. However, carrier testing is useful for family planning, especially for siblings of an affected child, and should be offered through a genetics counselor.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ