PAICS
The PAICS Gene: A Key Player in Metabolism, Health, and Disease
Description
The PAICS gene, also known as the phosphoribosylaminoimidazole carboxylase gene, provides instructions for producing the PAICS enzyme. This enzyme plays a crucial role in the de novo purine biosynthesis pathway, which is essential for synthesizing nucleotides, the building blocks of DNA and RNA. PAICS catalyzes the fourth step of this pathway, converting phosphoribosylaminoimidazole (AIR) to carbamoyl phosphate ribose 1-phosphate (CP-ribose-P).
Associated Diseases
Mutations in the PAICS gene have been linked to several diseases, including:
- Phosphoribosylaminoimidazole carboxylase deficiency (PAICS deficiency): A rare genetic disorder characterized by the accumulation of toxic metabolites and severe developmental abnormalities.
- Lesch-Nyhan syndrome: A rare X-linked disorder characterized by neurological dysfunction, including dystonia, self-mutilation, and intellectual disability.
- Gout: A metabolic disorder characterized by the excessive accumulation of uric acid, leading to joint pain and inflammation.
Did you Know ?
PAICS deficiency is an extremely rare condition, affecting approximately 1 in 100,000 individuals worldwide.
