EC Number   |
Natural Substrates |
|---|
   6.1.1.14 | ATP + glycine + tRNAGly |
- |
| 6.1.1.14 | ATP + glycine + tRNAGly |
enzyme mutation Nmf249 causes Charcot-Marie-Tooth peripheral neuropathy type 2D, overview |
| 6.1.1.14 | ATP + glycine + tRNAGly |
enzyme mutations with reduced enzyme activity cause distal spinal muscular atrophy type V or Charcot-Marie-Tooth type 2D, i.e. dSMAV/CMT2D |
| 6.1.1.14 | ATP + glycine + tRNAGly |
GlyRS allelic variants are causally associated with the Charcot-Marie-Tooth disease, the most common genetic disorder of the peripheral nervous system |
| 6.1.1.14 | ATP + glycine + tRNAGly |
GlyRS mutations cause Charcot-Marie-Tooth peripheral neuropathies, at least 10 different mutant alleles, overview |
| 6.1.1.14 | ATP + glycine + tRNAGly |
GlyRS mutations cause Charcot-Marie-Tooth peripheral neuropathies, the most common heritable disease of the peripheral nervous system, overview |
| 6.1.1.14 | ATP + glycine + tRNAGly |
mutations in the enzyme cause Charcot-Marie-Tooth disease type 2D, CMT2D, and distal spinal muscular atrophy type V, dSMA-V, axonal neuropathies characterized by a phenotype that is more severe in the upper extremities, in most cases, mutant GARS protein mislocalizes in neuronal cells |
| 6.1.1.14 | ATP + glycine + tRNAGly |
insertion of glycine into proteins |
| 6.1.1.14 | ATP + glycine + tRNAGly |
protein synthesis |
| 6.1.1.14 | more |
in a side reaction the enzyme also synthesizes dinucleoside polyphosphates, which probably participate in regulation of cell function |
