| TSEN54 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TSEN54 , PCH2A, PCH4, SEN54L, sen54, PCH5, tRNA splicing endonuclease subunit 54 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608755; MGI: 1923515; HomoloGene: 35476; GeneCards: TSEN54; OMA:TSEN54 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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TRNA splicing endonuclease subunit 54 is a protein that in humans is encoded by the TSEN54 gene. [5]
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. Sepahvand et al. declared that due to the greatly overlapped phenotypes with well‐described types of PCH, e.g. PCH2, PCH4, and PCH5, "TSENopathies" term should be used which encompasses all described phenotypes of PCHs. [6] They also reported an infratentorial chronic subdural hematoma was detected next to the Galen vein that had been developed in the line of anterior flax, supra‐ and infratentorial atrophy, hypoplasia of the pons, cerebellum and corpus callosum, delayed cerebral myelination and gray and white matter volume loss, absent folding of the olivary nucleus, and loss of transverse fibers of the pons. An extra-axial CSF space was also evident due to brain atrophy. Two novel phenotype was also reported by Sepahvand et al. as structural heart diseases including a large patent foramen ovale (>23 microbubbles), patent ductus arteriosus, and mild tricuspid and mitral valve regurgitations, and a bilaterally moderate sensorineural hearing loss. [6]
In molecular biology, endonucleases are enzymes that cleave the phosphodiester bond within a polynucleotide chain. Some, such as deoxyribonuclease I, cut DNA relatively nonspecifically, while many, typically called restriction endonucleases or restriction enzymes, cleave only at very specific nucleotide sequences. Endonucleases differ from exonucleases, which cleave the ends of recognition sequences instead of the middle (endo) portion. Some enzymes known as "exo-endonucleases", however, are not limited to either nuclease function, displaying qualities that are both endo- and exo-like. Evidence suggests that endonuclease activity experiences a lag compared to exonuclease activity.
Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.
Glycine—tRNA ligase also known as glycyl–tRNA synthetase is an enzyme that in humans is encoded by the GARS1 gene.
DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.
H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the gene DKC1.
Laminin subunit beta-3 is a protein that in humans is encoded by the LAMB3 gene.
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.
Slow skeletal muscle troponin T (sTnT) is a protein that in humans is encoded by the TNNT1 gene.
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.
General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2 gene.
Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.
RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.
Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), also known as ADP-forming succinyl-CoA synthetase (SCS-A), is an enzyme that in humans is encoded by the SUCLA2 gene on chromosome 13.
tRNA-splicing endonuclease subunit Sen15 is an enzyme that in humans is encoded by the TSEN15 gene.
tRNA-splicing endonuclease subunit Sen34 is an enzyme that in humans is encoded by the TSEN34 gene.
tRNA-splicing endonuclease subunit Sen2 is an enzyme that in humans is encoded by the TSEN2 gene.
Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein in humans.
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem. Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.
tRNA-intron lyase is an enzyme. As an endonuclease enzyme, tRNA-intron lyase is responsible for splicing phosphodiester bonds within non-coding ribonucleic acid chains. These non-coding RNA molecules form tRNA molecules after being processed, and this is dependent on tRNA-intron lyase to splice the pretRNA. tRNA processing is an important post-transcriptional modification necessary for tRNA maturation because it locates and removes introns in the pretRNA. This enzyme catalyses the following chemical reaction:
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms – is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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