功能Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).
组织特异性Expression is highest in kidney, strong in brain and weaker in placenta and spleen.
疾病相关Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:609924]. 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.