ALDOB Chromosome 9
Aldolase, fructose-bisphosphate B
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What This Gene Does
Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Aldolases
Locus Type
gene with protein product
Location
9q31.1
Ensembl
ENSG00000136872
Associated Conditions (6)
Hereditary fructosuria
Inborn genetic diseases
See cases
ALDOB-related disorder
Glycogen storage disease
Clear cell carcinoma of kidney
Key Variants
RS1176960115
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS118204429
Conflicting classifications of pathogenicity
Hereditary fructosuria, Inborn genetic diseases, See cases
Health Risk
RS138866018
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS141888548
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS141988626
Conflicting classifications of pathogenicity
Hereditary fructosuria, ALDOB-related disorder, Hereditary fructosuria
Health Risk
RS145078268
Conflicting classifications of pathogenicity
Hereditary fructosuria, Inborn genetic diseases, ALDOB-related disorder
Health Risk
RS146360505
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS182003715
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS185972191
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS200585150
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS201867948
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
RS202062631
Conflicting classifications of pathogenicity
Hereditary fructosuria, Hereditary fructosuria
Health Risk
All Variants (133)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1176960115 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS118204429 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Inborn genetic diseases, See cases |
| RS138866018 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS141888548 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS141988626 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Hereditary fructosuria |
| RS145078268 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Inborn genetic diseases, ALDOB-related disorder |
| RS146360505 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS182003715 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS185972191 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS200585150 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS201867948 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS202062631 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS202210810 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS35885472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Clear cell carcinoma of kidney |
| RS369238799 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS538037262 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Inborn genetic diseases |
| RS546735701 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Hereditary fructosuria |
| RS549682194 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Hereditary fructosuria |
| RS569981883 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Hereditary fructosuria |
| RS572044496 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS578048957 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS61757689 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, ALDOB-related disorder, Hereditary fructosuria |
| RS747019279 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS752810910 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Inborn genetic diseases, Hereditary fructosuria |
| RS773334784 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria, Hereditary fructosuria |
| RS781023784 | Health Risk | Conflicting classifications of pathogenicity | Hereditary fructosuria, Hereditary fructosuria |
| RS1057516534 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1057517091 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1179941004 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1181672712 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1270747182 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria, Hereditary fructosuria |
| RS1300461861 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1322689394 | Health Risk | Likely pathogenic | — |
| RS1345605443 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1402343211 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1478306331 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702325 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702328 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702353 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702425 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702433 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702666 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1554702890 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1831052831 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1831103567 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1831150965 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1831191030 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS1831192129 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |
| RS199965465 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria, Hereditary fructosuria |
| RS2118332973 | Health Risk | Likely pathogenic | Hereditary fructosuria, Hereditary fructosuria |