PAICS Chromosome 4
Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Purinosome
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000128050
Associated Conditions (1)
Phosphoribosylaminoimidazole carboxylase deficiency
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS192831239 | Health Risk | Pathogenic | Phosphoribosylaminoimidazole carboxylase deficiency, Phosphoribosylaminoimidazole carboxylase deficiency |