Gene: TSEN54

Alternate names for this Gene: PCH2A|PCH4|PCH5|SEN54L|sen54

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: tRNA splicing endonuclease subunit 54

Type of Gene: protein-coding

rs113994152 in TSEN54 gene and PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) PMID 18711368 2008 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

PMID 23177318 2013 Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

PMID 24886362 2014 Natural course of pontocerebellar hypoplasia type 2A.

rs113994152 in TSEN54 gene and Pontocerebellar Hypoplasia Type 2A PMID 29410950 2018 TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.

PMID 23307886 2014 Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

PMID 24886362 2014 Natural course of pontocerebellar hypoplasia type 2A.

PMID 23177318 2013 Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

PMID 21368912 2011 TSEN54 mutations cause pontocerebellar hypoplasia type 5.

PMID 18711368 2008 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

PMID 20803644 2010 Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

PMID 27570394 2016 The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation.

rs62088463 in TSEN54 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.