Recombinant human Aminoacylase/ACY1 protein

Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) . ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. Recombinant human ACY1 protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.