LDHA Chromosome 11
Lactate dehydrogenase A
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What This Gene Does
This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023]
Gene Info
Gene Group
L-lactate dehydrogenase family
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000134333
Associated Conditions (4)
decreased blood alpha-hydroxyisovalerate levels
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
LDHA-related disorder
Inborn genetic diseases
Key Variants
RS2403254
association
decreased blood alpha-hydroxyisovalerate levels, decreased blood alpha-hydroxyisovalerate levels
Health Risk
RS11553870
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS116841148
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS141158742
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, LDHA-related disorder, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS143206293
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Inborn genetic diseases, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS149588992
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS184074326
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS187005834
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS199653952
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS201254300
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS202160072
Conflicting classifications of pathogenicity
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
RS2494611829
Likely pathogenic
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2403254 | Health Risk | association | decreased blood alpha-hydroxyisovalerate levels, decreased blood alpha-hydroxyisovalerate levels |
| RS11553870 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS116841148 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS141158742 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, LDHA-related disorder, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS143206293 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Inborn genetic diseases, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS149588992 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS184074326 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS187005834 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS199653952 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS201254300 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS202160072 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS2494611829 | Health Risk | Likely pathogenic | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS779023149 | Health Risk | Likely pathogenic | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS1440890027 | Health Risk | Pathogenic | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS1590216677 | Health Risk | Pathogenic | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS201372985 | Health Risk | Pathogenic | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| RS777988373 | Health Risk | Pathogenic | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |