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TSEN34 gene

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

TSEN34 gene

The TSEN34 gene provides instructions for a subunit of the tRNA splicing endonuclease complex, which is critical for RNA processing and brain development.

Normal Function

The TSEN34 gene provides instructions for making one part (subunit) of an enzyme called the tRNA splicing endonuclease complex. This complex is essential for processing transfer RNA (tRNA) by removing introns, allowing the molecules to become functional for protein assembly. Additionally, the complex is suspected to be involved in polyadenylation of messenger RNA (mRNA), which adds a poly(A) tail to protect mRNA and signal the end of protein production.

Health Conditions Related to Genetic Changes

Pontocerebellar hypoplasia

At least one mutation in the TSEN34 gene has been identified in people with pontocerebellar hypoplasia, a disorder of brain development. TSEN34 gene mutations cause a small percentage of cases of pontocerebellar hypoplasia type 2 (PCH2), sometimes categorized as PCH2C. Major features include:

  • Delayed development
  • Problems with movement
  • Intellectual disability

The specific mutation (Arg58Trp or R58W) impairs the function of the tRNA splicing endonuclease complex. This likely disrupts RNA processing and protein production, which appears to have the most severe impact on fast-growing tissues like the brain before birth.

Other Names for This Gene

  • LENG5
  • SEN34
  • SEN34_HUMAN
  • SEN34L
  • tRNA splicing endonuclease 34
  • tRNA splicing endonuclease 34 homolog (S. cerevisiae)
  • TSEN34 tRNA splicing endonuclease subunit

Frequently Asked Questions

Individuals with PCH2C due to TSEN34 gene mutations typically experience significant developmental delays, problems with movement coordination and balance, and intellectual disability. These issues often become apparent early in life.
The TSEN34 gene provides instructions for a crucial part of an enzyme complex that processes transfer RNA (tRNA), which is essential for making functional proteins. When there's a mutation, this RNA processing is disrupted, leading to a shortage of necessary proteins. This particularly impacts fast-growing tissues like the brain during prenatal development, causing its characteristic underdevelopment.
Yes, PCH2C caused by TSEN34 mutations is an inherited condition. It is typically inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who each carry one copy of the mutated gene usually do not show symptoms themselves.
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.