Function
Aminoacylase involved in the hydrolysis of N-acetylated and N-formylated amino acids. May act sequentially with APEH in the degradation of N-acylated peptides: APEH first cleaves N-acylaminoacids from N-acylated peptides, then ACY1 further hydrolyzes the N-acylaminoacid into free aminoacid and a carboxylate.
Biological Context
Subcellular Location: Cytoplasm
Tissue Specificity: Expression is highest in kidney, strong in brain and weaker in placenta and spleen
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human/Mouse/Rat sapiens (Human) ACY1 Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
