mitochondrial tRNA pseudouridine synthase A [Homo sapiens]

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Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood. [Eur J Hum Genet. 2015]
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Metodiev MD, Assouline Z, Landrieu P, Chretien D, Bader-Meunier B, Guitton C, Munnich A, Rötig A. Eur J Hum Genet. 2015 Jun; 23(6):880-2. Epub 2014 Sep 17.
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. [RNA. 2008]
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.
Sibert BS, Fischel-Ghodsian N, Patton JR. RNA. 2008 Sep; 14(9):1895-906. Epub 2008 Jul 22.
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). [J Med Genet. 2007]
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. J Med Genet. 2007 Mar; 44(3):173-80. Epub 2006 Oct 20.

RefSeq genomic sequence
See the genomic reference sequence for the PUS1 gene (NG_013039.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the PUS1 gene.

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Protein