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ATIC

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
2 disorders 1 causative 1 no genetic record 2q35 gene with protein product
HGNC:794MonarchNCBI Gene 471ENSG00000138363UniProt P31939OMIM 601731

Aliases: PURH, AICARFT, IMPCHASE.

Normal function · from ai-gene-review (P31939, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
AICA-ribosiduria causative germline loss of function
mechanism: ATIC Bifunctional Enzyme Deficiency
Methotrexate Toxicity no genetic record
mechanism: De Novo Purine Synthesis Blockade

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.