Entrez gene ID | | 226 |
Official gene symbol | | ALDOA |
Full name | | aldolase A, fructose-bisphosphate |
Aliases | | ,ALDA,GSD12,MGC10942,MGC17716,MGC17767, |
Gene summary | | This gene product, Aldolase A (fructose-bisphosphate aldolase) is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants which encode the same protein. [provided by RefSeq] |
Location | | Chromosome: 16 Locus: 16p11.2 |
Gene position | | 30064491 - 30081735 Map Viewer |
Gene orientation | | plus |
Gene size | | 17245 bp |
Gene sequence |
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OMIM ID | | 103850 |
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