ACY1 Gene - Aminoacylase 1: Function, Mutations, and Associated Diseases

The ACY1 gene encodes aminoacylase 1, a homodimeric zinc-binding enzyme that catalyzes the hydrolysis of N-acetylated amino acids into acetate and free amino acids. This enzyme is primarily expressed in the kidney, liver, and brain and plays a critical role in the metabolism of N-acetylated proteins and amino acids. Mutations in ACY1 cause aminoacylase 1 deficiency, a rare autosomal recessive metabolic disorder characterized by neurological symptoms, intellectual disability, and elevated urinary N-acetylated amino acids.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Metabolism of amino acids and derivatives (Reactome: R-HSA-71291)

• Degradation of N-acetylated amino acids (KEGG: hsa00260)

Aminoacylase 1 (ACY1) is a 408-amino acid homodimeric enzyme that requires zinc for catalytic activity. It is localized in the cytosol and catalyzes the deacetylation of N-acetylated L-amino acids. The protein is highly expressed in kidney proximal tubules, liver, and brain. Structural studies reveal a zinc-binding site essential for catalysis. Deficiency leads to accumulation of N-acetylated amino acids in urine and cerebrospinal fluid, associated with neurological disease.