EC Number   |
General Information |
Reference |
|---|
   2.3.1.13 | malfunction |
5 novel single nucleotide polymorphisms of the GlyAT gene, including a polymorphism resulting in an amino acid change of Arg131His, in Japanese individuals are identified. The allelic frequency of this polymorphism in Japanese is 0.005, and none possessed this single nucleotide polymorphism among 31 caucasian individuals. Three genetic polymorphisms, 7527 T to A, 21289G to A and 21364A to G, cause the amino acid changes |
703426 |
| 2.3.1.13 | metabolism |
the enzyme activity affects mitochondrial ATP production, glycine availability, free coenzyme A availability, and the toxicity of various organic acids |
736070 |
| 2.3.1.13 | physiological function |
siRNA knockdown of GLYATL3 in N18TG2 cells results in a decrease in the levels of N-acylglycines and primary fatty acid amides |
757373 |
| 2.3.1.13 | physiological function |
the enzyme plays a role in liver cancer and musculoskeletal development |
736070 |
