TSEN15 Chromosome 1
TRNA splicing endonuclease subunit 15
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What This Gene Does
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]
Gene Info
Gene Group
tRNA-splicing endonuclease subunits
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000198860
Associated Conditions (2)
Pontocerebellar hypoplasia
type 2F
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879253780 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 2F, Pontocerebellar hypoplasia |
| RS879253779 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 2F, Pontocerebellar hypoplasia |