GENE REFERENCE / HGNC:6535

LDHA

lactate dehydrogenase A

protein-coding gene11p15.1Gene information

What does this gene do?

The LDHA gene provides instructions for making a protein called lactate dehydrogenase-A, which is one piece (subunit) of the lactate dehydrogenase enzyme. There are five different forms of this enzyme, each made up of four protein subunits. Various combinations of lactate dehydrogenase-A subunits and lactate dehydrogenase-B subunits (which are produced from a different gene) make up the different forms of the enzyme. The lactate dehydrogenase enzyme is found throughout the body and is important for performing a chemical reaction that provides energy for the body.

The version of lactate dehydrogenase made of four lactate dehydrogenase-A subunits is found primarily in skeletal muscles, which are muscles used for movement. Skeletal muscles need large amounts of energy during high-intensity physical activity when the body's oxygen intake is not sufficient for the amount of energy required (anaerobic exercise). To create additional energy, glucose stored in the body as glycogen gets broken down. During the final stage of glycogen breakdown, the lactate dehydrogenase enzyme converts the molecule pyruvate into a similar molecule called lactate, which can be used by the body for energy.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2012-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 285
Submissions for variants in or overlapping this gene: 450
Submissions explicitly reporting this gene: 426
Alleles reported pathogenic / likely pathogenic: 15
VariationIDs with uncertain significance: 125
VariationIDs with conflicting classifications: 11

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about LDHA?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 15 alleles in LDHA reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in LDHA.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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