FBP1 Chromosome 9
Fructose-bisphosphatase 1
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What This Gene Does
Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fructose-1,6-bisphosphatases
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000165140
Associated Conditions (3)
Fructose-biphosphatase deficiency
FBP1-related disorder
Inborn genetic diseases
Key Variants
RS1064795826
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS112446147
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS1248299502
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS139264724
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS140222720
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS143832764
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS147392679
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS148942437
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS1554682769
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS1827646865
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS200679026
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, FBP1-related disorder, Fructose-biphosphatase deficiency
Health Risk
RS201591116
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2538936176 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538944759 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538947228 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538947336 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538965613 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538965763 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS566453434 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS764292673 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS766005419 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918188 | Health Risk | Pathogenic/Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS757653154 | Health Risk | Pathogenic/Likely pathogenic | Fructose-biphosphatase deficiency, Inborn genetic diseases, Fructose-biphosphatase deficiency |
| RS758609113 | Health Risk | Pathogenic/Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS761470205 | Health Risk | Pathogenic/Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS774362519 | Health Risk | Pathogenic/Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS780803192 | Health Risk | Pathogenic/Likely pathogenic | Fructose-biphosphatase deficiency, FBP1-related disorder, Fructose-biphosphatase deficiency |