Lysine residues glutamate dehydrogenase

Amino acids important in cofactor and catalysis in human 1 lb-hydroxysteroid dehydrogenase types 1 and 2. (a) 1 lb-HSD type 1. Preference of 1 lb-HSD type 1 for NADPH resides in lysine-44 and arginine-66, which have positively charged side chains that stabilize the binding of the 2 -phosphate on NADPH. These residues also counteract the repulsive interaction between glutamic acid 69 and the phosphate group,... 

MCAD deficiency is an autosomal recessive disorder caused by the substitution of a T for an A at position 985 of the MCAD gene. This mutation causes a lysine to replace a glutamate residue in the protein, resulting in the production of an unstable dehydrogenase. 

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