ATIC Chromosome 2
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
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What This Gene Does
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]
Gene Info
Gene Group
Purinosome
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000138363
Associated Conditions (3)
methotrexate response - Efficacy
AICA-ribosiduria
See cases
Key Variants
RS4673993
drug response
methotrexate response - Efficacy, methotrexate response - Efficacy
Drug Response
RS121434478
Conflicting classifications of pathogenicity
AICA-ribosiduria, See cases, AICA-ribosiduria
Health Risk
RS199572387
Conflicting classifications of pathogenicity
Health Risk
RS2105985030
Conflicting classifications of pathogenicity
AICA-ribosiduria, AICA-ribosiduria, AICA-ribosiduria
Health Risk
RS150994921
Likely pathogenic
Health Risk
RS2469011733
Likely pathogenic
Health Risk
RS755898039
Likely pathogenic
AICA-ribosiduria, AICA-ribosiduria
Health Risk
RS1389373911
Pathogenic
AICA-ribosiduria, AICA-ribosiduria
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS4673993 | Drug Response | drug response | methotrexate response - Efficacy, methotrexate response - Efficacy |
| RS121434478 | Health Risk | Conflicting classifications of pathogenicity | AICA-ribosiduria, See cases, AICA-ribosiduria |
| RS199572387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2105985030 | Health Risk | Conflicting classifications of pathogenicity | AICA-ribosiduria, AICA-ribosiduria, AICA-ribosiduria |
| RS150994921 | Health Risk | Likely pathogenic | — |
| RS2469011733 | Health Risk | Likely pathogenic | — |
| RS755898039 | Health Risk | Likely pathogenic | AICA-ribosiduria, AICA-ribosiduria |
| RS1389373911 | Health Risk | Pathogenic | AICA-ribosiduria, AICA-ribosiduria |