Fig. 2
From: Galactose epimerase deficiency: lessons from the GalNet registry
Cartoon representations of the crystal structure of human GALE in complex with UDP-glucose and NADH. A Crystallography of GALE enzyme in dimeric form B Two views of the monomeric protein with locations of genetic variants found in study population. Arrows depict the locations of the amino acids found to be altered in response to genetic variants seen in disease. Those shown in dark blue are missense genetic variants while those in pink are those unknown to gnomAD (Genome Aggregation Database). Figures were created in Pymol (www.pymol.org). PDB entry 1EK6 was used. Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM (2000) Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase. Biochemistry 39: 5691–5701