ATIC

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]

Description

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Protein family

Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

2:q35 (215311817 - 215349773)

Ensembl ID

ENSG00000138363  (ver. 84.38)

Orthologs

Mouse Atic: ENSMUSG00000026192

UniProt

P31939

neXtProt

NX_P31939

Human splice variants
Mouse splice variants