Human Aminoacylase 1 (ACY1) Protein

Background

ACY1 is a cytosolic enzyme responsible for catalyzing the hydrolysis of N-acylated amino acids into free amino acids and their corresponding acyl groups. This process is crucial for the metabolism and recycling of amino acids, particularly in tissues like the liver and kidneys, where ACY1 contributes to nitrogen balance and detoxification. ACY1 plays a role in regulating the intracellular pool of amino acids for protein synthesis and metabolic processes. Deficiency in ACY1 activity, caused by genetic mutations, leads to aminoacylase 1 deficiency, a rare metabolic disorder characterized by the accumulation of N-acetylated amino acids in the urine, with possible neurological and developmental consequences. In addition to its metabolic role, ACY1 is expressed in certain cancers, where it may influence tumor metabolism and growth. Its enzymatic function in amino acid metabolism underscores its importance in cellular and systemic homeostasis.