ALDOA Chromosome 16
Aldolase, fructose-bisphosphate A
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What This Gene Does
This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein 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. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
Aldolases
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000149925
Associated Conditions (2)
HNSHA due to aldolase A deficiency
ALDOA-related disorder
Key Variants
RS138824667
Conflicting classifications of pathogenicity
HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency
Health Risk
RS142759891
Conflicting classifications of pathogenicity
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS142957871
Conflicting classifications of pathogenicity
HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency
Health Risk
RS200278984
Conflicting classifications of pathogenicity
HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency
Health Risk
RS3169548
Conflicting classifications of pathogenicity
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS565013143
Conflicting classifications of pathogenicity
HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency
Health Risk
RS1340894214
Likely pathogenic
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS2151019809
Likely pathogenic
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS892947296
Likely pathogenic
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS121909533
Pathogenic
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS121909534
Pathogenic
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
RS762619360
Pathogenic
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138824667 | Health Risk | Conflicting classifications of pathogenicity | HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency |
| RS142759891 | Health Risk | Conflicting classifications of pathogenicity | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS142957871 | Health Risk | Conflicting classifications of pathogenicity | HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency |
| RS200278984 | Health Risk | Conflicting classifications of pathogenicity | HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency |
| RS3169548 | Health Risk | Conflicting classifications of pathogenicity | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS565013143 | Health Risk | Conflicting classifications of pathogenicity | HNSHA due to aldolase A deficiency, ALDOA-related disorder, HNSHA due to aldolase A deficiency |
| RS1340894214 | Health Risk | Likely pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS2151019809 | Health Risk | Likely pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS892947296 | Health Risk | Likely pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS121909533 | Health Risk | Pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS121909534 | Health Risk | Pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS762619360 | Health Risk | Pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS773601711 | Health Risk | Pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS2151019295 | Health Risk | Pathogenic/Likely pathogenic | HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |