ATIC gene

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

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.

Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).

From NCBI Gene:

  • AICAR transformylase/IMP cyclohydrolase deficiency

From UniProt:

AICAR transformylase/IMP cyclohydrolase deficiency (AICAR): A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. [MIM:608688]

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35

Molecular Location: base pairs 215,311,956 to 215,359,745 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35
  • AICAR
  • AICARFT
  • HEL-S-70p
  • IMPCHASE
  • PURH