TSEN54

Chr 17AR

tRNA splicing endonuclease subunit 54

Also known as: PCH2A, PCH4, PCH5, SEN54L, sen54

NCBI Gene: 283989 ENSG00000182173 UniProt: Q7Z6J9 OMIM: 608755

This gene encodes a subunit of the tRNA splicing endonuclease complex that catalyzes intron removal from precursor tRNAs and is involved in pre-mRNA 3-prime end processing. Mutations cause pontocerebellar hypoplasia types 2A, 4, and 5 through autosomal recessive inheritance. The pathogenic mechanism involves disrupted tRNA processing leading to defective protein synthesis.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Pontocerebellar hypoplasia type 5MIM #610204

Pontocerebellar hypoplasia type 2AMIM #277470

Pontocerebellar hypoplasia type 4MIM #225753

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.88

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TSEN54