Aminoacylase-1
Function
Catalyzes the hydrolysis of N-acetylated amino acids to acetate and free amino acids.
Involvement in disease
Aminoacylase-1 deficiency
ACY1D
An enzymatic deficiency resulting in 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M20A family.
Tissue Specificity
Expression is highest in kidney, strong in brain and weaker in placenta and spleen.
Cellular localization
- Cytoplasm
Alternative names
Aminoacylase-1, ACY-1, N-acyl-L-amino-acid amidohydrolase, ACY1