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LDHA

Synonyms
GSD11, HEL-S-133P, LDHM, PIG19
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,096
Likely benign
2,743
Benign
92

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on LDHA gene.

Phenotype class
Patients in 3billion (%)

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