Mutations of the ADH5 gene and ALDH2 gene cause AMED syndrome, an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, short stature, growth impairment and early development of myelodysplastic syndrome and bone marrow failure. The syndrome was first described in 2020.
PDB gallery
1m6h: Human glutathione-dependent formaldehyde dehydrogenase
1m6w: Binary complex of Human glutathione-dependent formaldehyde dehydrogenase and 12-Hydroxydodecanoic acid
1ma0: Ternary complex of Human glutathione-dependent formaldehyde dehydrogenase with NAD+ and dodecanoic acid
1mc5: Ternary complex of Human glutathione-dependent formaldehyde dehydrogenase with S-(hydroxymethyl)glutathione and NADH
1mp0: Binary Complex of Human Glutathione-Dependent Formaldehyde Dehydrogenase with NAD(H)
1teh: STRUCTURE OF HUMAN LIVER CHICHI ALCOHOL DEHYDROGENASE (A GLUTATHIONE-DEPENDENT FORMALDEHYDE DEHYDROGENASE)
2fze: Crystal structure of the binary complex of human glutathione-dependent formaldehyde dehydrogenase with ADP-ribose
2fzw: Structure of the binary complex of the E67L mutant of human glutathione-dependent formaldehyde dehydrogenase with NAD(H)