|Other Names||tRNA pseudouridine synthase A, mitochondrial, tRNA pseudouridine(38-40) synthase, tRNA pseudouridylate synthase I, tRNA-uridine isomerase I, PUS1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).|
|Cellular Location||Isoform 1: Mitochondrion|
|Tissue Location||Widely expressed. High levels of expression found in brain and skeletal muscle.|
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This gene encodes a pseudouridine synthase that convertsuridine to pseudouridine once it has been incorporated into an RNAmolecule. The encoded enzyme may play an essential role in tRNAfunction and in stabilizing the secondary and tertiary structure ofmany RNAs. A mutation in this gene has been linked to mitochondrialmyopathy and sideroblastic anemia. Alternate splicing results inmultiple transcript variants.
Bergmann, A.K., et al. Pediatr Blood Cancer 54(2):273-278(2010)Sibert, B.S., et al. RNA 14(9):1895-1906(2008)Rikova, K., et al. Cell 131(6):1190-1203(2007)Sugiyama, N., et al. Mol. Cell Proteomics 6(6):1103-1109(2007)Fernandez-Vizarra, E., et al. J. Med. Genet. 44(3):173-180(2007)
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