TSEN15

Chr 1

tRNA splicing endonuclease subunit 15

Also known as: C1orf19, PCH2F, sen15

NCBI Gene: 116461 ENSG00000198860 UniProt: Q8WW01

The protein is a subunit of the tRNA splicing endonuclease that catalyzes the removal of introns from tRNA precursors. Autosomal recessive mutations cause pontocerebellar hypoplasia type 2F. Loss of function disrupts tRNA processing, which impairs protein synthesis and leads to the characteristic developmental abnormalities of the brainstem and cerebellum.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPontocerebellar hypoplasia 2F

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.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

0.80

LOEUF

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Mechanism

Some data sources returned errors (1)

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