ARG1 Chromosome 6
Arginase 1
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What This Gene Does
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Associated Conditions (8)
Arginase deficiency
Inborn genetic diseases
Gastric cancer
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
ARG1-related disorder
Key Variants
RS1296916689
Conflicting classifications of pathogenicity
Arginase deficiency, Inborn genetic diseases, Arginase deficiency
Health Risk
RS144994895
Conflicting classifications of pathogenicity
Arginase deficiency, Gastric cancer, Thyroid cancer
Health Risk
RS182650447
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS202219126
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS2114549524
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS2482368300
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS747275658
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS754259099
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS755973004
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency, Arginase deficiency
Health Risk
RS764273304
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
RS775435820
Conflicting classifications of pathogenicity
Arginase deficiency, ARG1-related disorder, Arginase deficiency
Health Risk
RS776119677
Conflicting classifications of pathogenicity
Arginase deficiency, Arginase deficiency
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756080885 | Health Risk | Pathogenic | Arginase deficiency, Arginase deficiency |
| RS766868484 | Health Risk | Pathogenic | Arginase deficiency, Arginase deficiency |
| RS796051923 | Health Risk | Pathogenic | Arginase deficiency, Arginase deficiency, Arginase deficiency |
| RS866970619 | Health Risk | Pathogenic | Arginase deficiency, Arginase deficiency |
| RS140549609 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1451472748 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS146625637 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS149310631 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1554251045 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1554251356 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1773910245 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1773915383 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1774036379 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS1774059448 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS2114539596 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS2114549176 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS2482368714 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS2482369953 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS2482386783 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS28941474 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS745624953 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS753829097 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, ARG1-related disorder, Arginase deficiency |
| RS755359126 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS767219084 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |
| RS776939220 | Health Risk | Pathogenic/Likely pathogenic | Arginase deficiency, Arginase deficiency |