rs2134021527

This variant is located in the LDHA gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

About LDHA

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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