Aliases for ATIC Gene
- 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase 2 3 5
- Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP Cyclohydrolase 2 3
- PURH 3 4
- 5-Aminoimidazole-4-Carboxamide-1-Beta-D-Ribonucleotide Transformylase/Inosinicase 3
- AICAR Formyltransferase/IMP Cyclohydrolase Bifunctional Enzyme 3
- Epididymis Secretory Sperm Binding Protein Li 70p 3
- Bifunctional Purine Biosynthesis Protein PURH 3
External Ids for ATIC Gene
Previous GeneCards Identifiers for ATIC 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]
GeneCards Summary for ATIC Gene
ATIC (5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase) is a Protein Coding gene. Diseases associated with ATIC include Aica-Ribosiduria Due To Atic Deficiency and Mental Retardation Epilepsy. Among its related pathways are One carbon pool by folate and AMP-activated Protein Kinase (AMPK) Signaling. GO annotations related to this gene include protein homodimerization activity and phosphoribosylaminoimidazolecarboxamide formyltransferase activity.
UniProtKB/Swiss-Prot for ATIC Gene
Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.
Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).