ACY1 : aminoacylase 1

Unraveling the Secrets of the ACY1 Gene

Description:

The ACY1 gene resides on chromosome 3 and harbors the blueprint for aminoacylase 1, an enzyme essential for the intricate breakdown of proteins within our bodies. This enzyme is omnipresent, found across various tissues, including the kidneys and the brain. Its primary function lies in the meticulous removal of acetyl groups, chemical entities that adorn certain protein building blocks known as amino acids. This crucial step paves the way for the recycling of these amino acids, enabling them to serve as the building blocks for new protein structures.

Associated Diseases:

Mutations within the ACY1 gene have been linked to a rare genetic disorder called N-acetylated α-linked acid dipeptidase deficiency, also known as NAALAD deficiency. Individuals with this condition lack the necessary enzyme to remove acetyl groups from specific amino acids, leading to the accumulation of these modified amino acids in the blood and urine. NAALAD deficiency can manifest in various symptoms, including delayed development, intellectual disability, and behavioral problems.

Did you Know ?

Approximately 1 in 100,000 individuals worldwide are estimated to have NAALAD deficiency, underscoring the rarity of this genetic disorder.