Gene Symbol | LDHA |
Entrez Gene ID | 3939 |
Full Name | lactate dehydrogenase A |
Synonyms | GSD11,HEL-S-133P,LDHM,PIG19 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]. |
Disorder MIM: | |
Disorder Html: | Glycogen storage disease XI, 612933 (3) |