PAICS
Function
Bifunctional phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazole succinocarboxamide synthetase catalyzing two reactions of the de novo purine biosynthetic pathway.
Involvement in disease
Phosphoribosylaminoimidazole carboxylase deficiency
PAICSD
An autosomal recessive inborn error of purine metabolism, clinically characterized by multiple congenital anomalies and early neonatal death.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 1/2.
Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate from 5-amino-1-(5-phospho-D-ribosyl)imidazole (carboxylase route): step 1/1.
Sequence Similarities
In the N-terminal section; belongs to the SAICAR synthetase family.
In the C-terminal section; belongs to the AIR carboxylase family. Class II subfamily.
Alternative names
ADE2, AIRC, PAIS, PAICS, Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase