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53 Possible Causes for Arginyl tRNA, Synthetase

  • Pelizaeus-Merzbacher Disease

    Whole-exome sequencing in two siblings presenting with clinical symptoms of PMD revealed a homozygous variant in the arginyl-tRNA synthetase (RARS) gene: NM_002887.3: c.[5A[ncbi.nlm.nih.gov] Whole-exome sequencing in two siblings presenting with clinical symptoms of PMD revealed a homozygous variant in the arginyl-tRNA synthetase (RARS) gene: NM_002887.3: c.[5A[ncbi.nlm.nih.gov] Protein levels of RARS and the multi-tRNA synthetase complex into which it assembles were found to be significantly reduced by 80 and 90% by western blotting and Blue native-PAGE[ncbi.nlm.nih.gov]

  • Cerebellar Atrophy

    Furthermore, p.Arg403Trp and p.Arg515Trp rendered QARS less soluble, and p.Arg403Trp disrupted QARS-RARS (arginyl-tRNA synthetase 1) interaction.[ncbi.nlm.nih.gov] Abstract Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently.[ncbi.nlm.nih.gov] Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy .[disorders.eyes.arizona.edu]

  • Polyclonal Hypergammaglobulinemia

    ALPL alkaline phosphatase, liver/bone/kidney 0.227297 IL6R interleukin 6 receptor 0.223509 CD40LG CD40 ligand 0.222479 APOA2 apolipoprotein A-II 0.192657 RARS arginyl-tRNA synthetase[amp.pharm.mssm.edu] […] placental 0.227642 ALPL alkaline phosphatase, liver/bone/kidney 0.227297 IL6R interleukin 6 receptor 0.223509 CD40LG CD40 ligand 0.222479 APOA2 apolipoprotein A-II 0.192657 RARS arginyl-tRNA[amp.pharm.mssm.edu]

  • Hyperornithinemia

    Argininosuccinic acid is produced from the condensation of citrulline and aspartate by a synthetase enzyme.[emedicine.medscape.com] (Arg) L-Arginyl- tRNA(Arg) tRNA(Pro) L-Prolyl- tRNA(Pro) Citric Acid Cycle Alanine Metabolism D-Arginine and D-Ornithine Metabolism D-Arginine and D-Ornithine Metabolism[smpdb.ca] […] deficiency Citrullinemia Congenital hyperammonemia, type I Deficiency, arginosuccinate lyase Deficiency, carbamyl phosphate synthetase Deficiency, N acetylglutamate synthetase[icd9data.com]

  • Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

    TARS *187790 Threonyl-tRNA synthetase 2, mitochondrial TARS2 *612805 Threonyl-tRNA synthetase-like 2 TARSL2 Tyrosyl-tRNA synthetase YARS *603623 Tyrosyl-tRNA synthetase 2[vumc.com] […] disease genes (MRPL3 and AARS2) reported both encode products required for mitochondrial ribosomal function (MRPL3 encodes a ribosomal sub-unit, while AARS2 encodes a t-RNA synthetase[massgenomics.org] Resolution of sub-ependymal cysts in neona tal holocarboxylase synthetase defi-ciency. Dev Med Child Neurol 1997;39:26726941.[docslide.com.br]

  • Transitional Pelizaeus-Merzbacher Disease

    […] of lysyl-tRNA synthetase and the scaffold protein p38 .[nature.com] Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P: Bi-allelic Mutations in Phe-tRNA Synthetase[forschdb.verwaltung.uni-freiburg.de] Yang F , Ji QQ , Ruan LL , Ye Q , Wang ED : The mRNA of human cytoplasmic arginyl-tRNA synthetase recruits prokaryotic ribosomes independently .[nature.com]

  • Thrombocytopenia-Absent Radius Syndrome

    Zusammensetzung zur Verwendung nach Anspruch 1, die weiter ein zweites Tyrosyl-tRNA-Synthetase-Polypeptid umfasst, wobei die beiden Tyrosyl-tRNA-Synthetase-Polypeptide ein[google.mk] […] syndrome (WAS) - Noonan syndrome - Alpert's syndrome Inherited metabolic disorders - Methylmalonic acidemia - Ketotic glycinemia - Isovaleric acidemia - Holocarboxylase synthetase[pediatriconcall.com] Innovative discovery of therapeutic, diagnostic, and antibody compositions related to protein fragments of arginyl-trna synthetases WO2011139988A2 ( en ) 2010-05-03 2011-11[google.mk]

  • Pontocerebellar Hypoplasia Type 1B

    […] of the PCH1 cases) and, in single cases, recessive mutations have been found in the tRNA splicing endonuclease homolog 54 ( TSEN54 ), mitochondrial arginyl-transfer RNA synthetase[orpha.net] Muscular Dystrophy, Type 2D) Alport syndrome** Alstrom syndrome AMT-related glycine encephalopathy Andermann syndrome Argininemia Argininosuccinic aciduria ARSACS Asparagine synthetase[jewishgenetics.org] […] homolog 54 ( TSEN54 ), mitochondrial arginyl-transfer RNA synthetase ( RARS2 ), and in the vaccinia-related kinase 1 ( VRK1 ) gene.[orpha.net]

  • Micrococcus Luteus

    15 15 7 1 SCOP 55874 ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 14 14 10 2 SCOP 55681 Class II aaRS and biotin synthetases 14 14 5 2 SCOP 55811[supfam.org] A G-U base pair in the acceptor stem was also changed to eliminate charging of the tRNA with alanine by an aminoacyl synthetase ( 28 , 29 ).[academic.oup.com] PEP carboxykinase N-terminal domain 1 1 1 1 SCOP 82679 N-utilization substance G protein NusG, N-terminal domain 1 1 1 0 SCOP 56436 C-type lectin-like 1 1 1 0 SCOP 55190 Arginyl-tRNA[supfam.org]

  • Cerebellar Hypoplasia and Atrophy

    Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6.[zora.uzh.ch] Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.[genome.jp] […] phosphatidylinositol 4-kinase alpha 11 87,858,323 87,975,549 RGD:8554872 RGD:7240710 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy G Qars glutaminyl-tRNA synthetase[rgd.mcw.edu]

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