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Results 1 - 3 of 3
EC Number Application Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.14medicine Charcot-Marie-Tooth disease, CMT, type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase 706875
Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.14medicine the distribution of mutations in the seven genes identified for hereditary motor neuropathy (HMN) is investigated in a cohort of 112 familial and isolated patients with a diagnosis of HMN. Nine different disease-causing mutations are found in small heat shock 22 kDa protein 8, small heat shock 27 kDa protein 1, Berardinelli-Seip congenital lipodystrophy and senataxin in 17 patients. No mutations are found in glycyl-tRNA synthetase, dynactin 1 and VAPB(VAMP)-associated protein B and C 691544
Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.14molecular biology translation of mRNA for yeast glycyl-tRNA synthetase is alternatively initiated from UUG and a downstream AUG initiation codon. Unlike an AUG initiation codon, efficiency of this non-AUG initiation codon is significantly affected by its sequence context, in particular the nucleotides at positions -3 to -1 relative to the initiation codon. A/A/R (R: A or G) and C/G/C appear to be the most and least favorable sequences at these positions, respectively. Mutation of the native context sequence -3 to -1 from AAA to CGC reduce translation initiation from the UUG codon up to 32fold and resulted in loss of mitochondrial respiration 693172
Results 1 - 3 of 3