This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: ADE2; ADE2H1; AIR carboxylase; AIRC; Multifunctional protein ADE2; multifunctional protein ADE2H1; PAIS; Phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase; Phosphoribosylaminoimidazole-succinocarboxamide synthase; SAICAR synthetase
Gene Aliases: ADE2; ADE2H1; AIRC; PAICS; PAIS
UniProt ID: (Human) P22234
Entrez Gene ID: (Human) 10606
Molecular Function: ligase