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RNASET2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RNASET2 gene

The RNASET2 gene provides instructions for creating the ribonuclease T2 protein, which is abundant in the brain and plays a role in breaking down RNA.

Normal Function

The RNASET2 gene provides instructions for making a protein called ribonuclease T2 (RNAse T2). This protein is abundant in the brain and functions as a ribonuclease, an enzyme that helps break down RNA, a chemical cousin of DNA. Research suggests this protein may also be involved in controlling the development of blood vessels (angiogenesis) and helping to prevent the growth of cancerous tumors, though these roles are not yet fully understood.

Health Conditions Related to Genetic Changes

RNAse T2-deficient leukoencephalopathy

At least 10 RNASET2 gene mutations have been identified in individuals with RNAse T2-deficient leukoencephalopathy. This disorder involves brain abnormalities that manifest during infancy, impacting intellectual ability and the development of motor skills such as sitting and crawling.

These mutations result in a loss of ribonuclease T2 protein function. While the exact mechanism linking this loss to neurological problems is unknown, researchers have noted that the symptoms resemble those of congenital cytomegalovirus (CMV) infection. It is hypothesized that both the viral infection and the loss of ribonuclease T2 may affect the developing brain through similar pathways, such as altered angiogenesis or an immune response to improperly broken-down RNA.

Other Names for This Gene

  • bA514O12.3
  • FLJ10907
  • ribonuclease 6
  • ribonuclease T2 precursor
  • RNASE6PL

Frequently Asked Questions

The exact mechanism is not fully understood, but the loss of RNASET2 protein function disrupts the normal breakdown of RNA in the brain. Researchers hypothesize that this accumulation of improperly processed RNA may trigger an immune response or alter angiogenesis (the formation of blood vessels) during critical periods of brain development. These disruptions mimic the damage seen in congenital CMV infection, suggesting that both the virus and the genetic defect interfere with similar developmental pathways in the central nervous system.
The condition typically manifests in infancy with developmental delays, specifically in motor milestones such as the inability to sit or crawl on time. Parents may also notice hypotonia (low muscle tone) and intellectual disability. Because the symptoms can resemble those of congenital cytomegalovirus (CMV) infection, clinicians often perform genetic testing to distinguish between the viral cause and the genetic defect in RNASET2 when an infant presents with these neurological signs.
The clinical course is generally characterized by early-onset developmental stagnation rather than rapid, acute deterioration. While the underlying brain abnormalities are present from infancy, the primary impact is on the acquisition of new skills and intellectual ability. Unlike some other leukoencephalopathies that involve rapid decline, this condition is often described in the context of static or slowly evolving neurological deficits, though long-term longitudinal data is limited due to the rarity of the disorder.
Diagnosis is confirmed through genetic testing, specifically sequencing of the RNASET2 gene to identify pathogenic variants. Since at least 10 distinct mutations have been identified, comprehensive sequencing is preferred over testing for single mutations. In some cases, functional studies may be conducted to verify that the identified variant leads to a loss of ribonuclease T2 activity, although clinical diagnosis is primarily based on the combination of characteristic neurological symptoms and the presence of a biallelic pathogenic variant in the gene.
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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