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Description
The ALDOB gene encodes the fructose-1,6-bisphosphate aldolase, a glycolytic enzyme involved in the metabolism of the simple sugar fructose. ALDOB is responsible for the second step in the metabolism of fructose, by converting the molecule fructose-1-phosphate into glyceraldehyde and dihydroxyacetone phosphate. The enzyme is a tetramer of identical 40-kD subunits. Vertebrates have 3 aldolase isozymes, aldolase A (ALDOA; OMIM: 103850), B (ALDOB), and C (ALDOC; OMIM: 103870), which are distinguished by their electrophoretic and catalytic properties. Mammalian tissues express aldolase isozymes in a well-characterized pattern. Developing embryo produces aldolase A, which continues to be expressed in many adult tissues, sometimes at much higher levels than in embryo. In adult muscle, aldolase A 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. In transformed liver cells, aldolase A replaces aldolase B (Rottmann et al., 1984).
External Information
Click here for more information about the Hereditary Fructose Intolerance genetic test.Additional information
Samples | EDTA |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | ALDOB |
Related diseases | |Fructose intolerance |
External Information | Click here for more information about the Hereditary Fructose Intolerance genetic test. |