PAICS

Bifunctional phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazole succinocarboxamide synthetase catalyzing two reactions of the de novo purine biosynthetic pathway.

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.

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.

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.

ADE2, AIRC, PAIS, PAICS, Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase

• entrezGene:10606
• omim:172439
• swissprot:P22234

Proteins

47079Da