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TSEN54
TRNA splicing endonuclease subunit 54 is a protein that in humans is encoded by the TSEN54 gene. Function 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 A primary transcript is the single-stranded ribonucleic acid (RNA) product synthesized by Transcription (genetics), transcription of DNA, and processed to yield various mature RNA products such as mRNAs, tRNAs, and rRNAs. The primary transcript ... 3-prime end processing. Clinical significance 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. They also reported an infratentorial chronic subdural hematoma was detected next to the Galen vein that had been develo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pontocerebellar Hypoplasia
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 (particularly the pons). Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH. Signs and symptoms There are different signs and symptoms for different forms of pontocerebellar hypoplasia, at least six of which have been described by researchers. All forms involve abnormal development of the brain, leading to slow development, movement problems, and intellectual impairment. The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2-ketoglutaric acid, adipic acid, and suberic acid which seems to support the thesis that CASK affects mitochondrial function. Causes Pontocerebellar hypoplasia is caused by mutations in genes including Sepsecs gene, VRK1 (PCH ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |