The ACY1 gene provides instructions for making an enzyme called aminoacylase 1, which is found in many tissues and organs, including the kidneys and the brain. This enzyme is involved in the breakdown of proteinswhen they are no longer needed. Many proteins in the body have a chemical group called an acetyl group attached to one end. This modification, called N-acetylation, helps protect and stabilize the protein. Aminoacylase 1 performs the final step in the breakdown of these proteins by removing the acetyl group from certain protein building blocks (amino acids). The amino acids can then be recycled and used to build other proteins.
Several mutations in the ACY1 gene have been identified in people with a condition called aminoacylase 1 deficiency. This condition is characterized by delayed development of mental and motor skills and other neurological problems, although some people with the condition have no signs or symptoms. Most of the associated ACY1 gene mutations change single amino acids in the aminoacylase 1 enzyme. These and other ACY1 gene mutations lead to production of an aminoacylase 1 enzyme with little or no function. Without this enzyme's function, acetyl groups are not efficiently removed from a subset of amino acids (including methionine, glutamic acid, alanine, serine, glycine, leucine, valine, threonine, and isoleucine) during the breakdown of proteins. The excess N-acetylated amino acids are released from the body in urine. It is not known how a reduction of aminoacylase 1 function leads to neurological problems in people with aminoacylase 1 deficiency.
- acylase 1
- N-acyl-L-amino-acid amidohydrolase