Meyahealth
HomeGeneticsGeneTSEN2 gene
Back to Gene
TSEN2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TSEN2 gene

The TSEN2 gene provides instructions for making a subunit of the tRNA splicing endonuclease complex, which is essential for processing RNA molecules.

Normal Function

The TSEN2 gene provides instructions for making one part (subunit) of an enzyme called the tRNA splicing endonuclease complex. This complex helps process several types of RNA molecules. It is particularly important for the normal processing of transfer RNA (tRNA), which helps assemble amino acids into proteins. The complex recognizes and removes regions called introns from tRNA molecules to make them functional.

Studies suggest the complex may also be involved in processing messenger RNA (mRNA). Researchers suspect the complex helps with polyadenylation, a process where a string of adenines (a poly(A) tail) is added to the end of mRNA molecules. This tail signals the stopping point for protein production and protects mRNA from being broken down prematurely.

Health Conditions Related to Genetic Changes

Pontocerebellar hypoplasia

At least four mutations in the TSEN2 gene have been identified in people with pontocerebellar hypoplasia, a disorder of brain development. TSEN2 gene mutations cause a small percentage of cases of pontocerebellar hypoplasia type 2 (PCH2), sometimes categorized as PCH2B. Major features include:

  • Delayed development
  • Problems with movement
  • Intellectual disability

The mutations impair the function of the tRNA splicing endonuclease complex, likely disrupting RNA processing and protein production. These changes appear to have the most severe impact on fast-growing tissues, such as those in the brain, before birth.

Other Names for This Gene

  • HsSen2
  • MGC2776
  • MGC4440
  • SEN2
  • SEN2_HUMAN
  • SEN2L
  • tRNA splicing endonuclease 2 homolog (S. cerevisiae)
  • tRNA-intron nuclease 2

Frequently Asked Questions

Diagnosis is made by sequencing the TSEN2 gene, usually via a targeted next‑generation panel for neurodevelopmental disorders or whole‑exome sequencing. A peripheral blood sample (5–10 mL) is standard; saliva or buccal swabs are acceptable if blood draw is not feasible.
TSEN2 mutations are inherited in an autosomal recessive pattern. If both parents are carriers, each subsequent pregnancy has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Prenatal diagnosis via chorionic villus sampling or amniocentesis, and pre‑implantation genetic testing for embryos, are available options after confirming the specific family mutations.
Children with TSEN2‑related PCH2 are prone to feeding difficulties, respiratory infections due to weak cough, and seizures. Monitor weight gain, ensure safe swallowing techniques, and have a low threshold for evaluating any new seizure‑like activity with EEG. Regular pulmonary assessments are advised if chronic aspiration is a concern.
Early intensive physiotherapy, occupational therapy, and speech therapy are the mainstays. While they cannot reverse the underlying brain malformation, they can maximize functional abilities, improve muscle tone, and support communication. Some centers also offer constraint‑induced movement therapy for the affected limbs.
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