Molecular Classification
Enzyme
Other Names
ACY-1, ACY1D, acylase 1, aminoacylase-1, N-acyl-L-amino-acid amidohydrolase, HEL-S-5
Disease Roles
Inborn error of metabolism (aminoacylase 1 deficiency)Potential biomarker for type 2 diabetes mellitus risk

Aminoacylase 1 Overview

Aminoacylase 1 (ACY1) is an enzyme found in many tissues and organs including the kidneys and brain. It catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, playing a key role in the breakdown of proteins by removing acetyl groups from certain amino acids during protein catabolism. This process allows these amino acids to be recycled for new protein synthesis. Mutations in the ACY1 gene cause aminoacylase 1 deficiency—a rare metabolic disorder characterized by neurological symptoms due to impaired removal of acetyl groups from specific amino acids. Reduced or undetectable expression has been observed in some cancers such as small-cell lung cancer. Recent studies have identified circulating levels of this enzyme as a potential biomarker associated with increased risk for developing type 2 diabetes mellitus[1][2][3].

Mechanism of Action

Biological Functions

Protein catabolism
Amino acid salvage

Disease Associations

Inborn error of metabolism (aminoacylase 1 deficiency)
Potential biomarker for type 2 diabetes mellitus risk

Safety Considerations

No safety concerns listed

Associated Biomarkers

Biomarker
Circulating aminoacylase 1 protein levels as a biomarker for future type 2 diabetes mellitus risk