ADE1

ADE1, also known as Adenosine Deaminase 1, is an enzyme encoded by the ADE1 gene in humans. It plays a crucial role in purine metabolism, specifically in the deamination of adenosine to inosine and of deoxyadenosine to deoxyinosine. This enzymatic activity is essential for the breakdown of adenine nucleotides, which are fundamental building blocks of DNA and RNA. The ADE1 enzyme belongs to the broader family of adenosine deaminases, but it is distinguished by its substrate specificity and cellular localization.

Mutations in the ADE1 gene can lead to a deficiency in adenosine deaminase activity. While rare, such deficiencies can have significant health consequences, primarily affecting the immune system. Adenosine and deoxyadenosine are toxic to lymphocytes when they accumulate, and their buildup due to ADE1 deficiency can impair T-cell and B-cell function, leading to severe combined immunodeficiency (SCID). This condition makes individuals highly susceptible to infections. Research into ADE1 and its role in purine metabolism continues to provide insights into immune system development and function, as well as potential therapeutic strategies for related disorders.