Entity Details

Primary name TSEN54
Entity type gene
Source Source Link

Details

PrimaryID283989
RefseqGeneNG_013041
SymbolTSEN54
NametRNA splicing endonuclease subunit 54
Chromosome17
Location17q25.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSEN54_HUMAN

GO terms

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GOName
GO:0000214 tRNA-intron endonuclease complex
GO:0000379 tRNA-type intron splice site recognition and cleavage
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation
GO:0006397 mRNA processing

Diseases

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Disease IDSourceNameDescription
610204 OMIMPontocerebellar hypoplasia 5 (PCH5)A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. The disease is caused by variants affecting the gene represented in this entry.
225753 OMIMPontocerebellar hypoplasia 4 (PCH4)A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. The disease is caused by variants affecting the gene represented in this entry.
277470 OMIMPontocerebellar hypoplasia 2A (PCH2A)A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. The disease is caused by variants affecting the gene represented in this entry.