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LDHB gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LDHB gene

The LDHB gene provides instructions for a subunit of the lactate dehydrogenase enzyme, which is vital for cellular energy production, particularly in heart muscle.

Normal Function

The LDHB gene provides instructions for making the lactate dehydrogenase-B protein, a subunit of the lactate dehydrogenase enzyme. This enzyme exists in five forms, created by combining lactate dehydrogenase-B and lactate dehydrogenase-A subunits. The enzyme is found throughout the body and is essential for creating energy from glucose. While most forms of the enzyme convert pyruvate into lactate, other forms can convert lactate back into pyruvate for further energy production. The version composed of four lactate dehydrogenase-B subunits is found primarily in cardiac muscle and functions to convert lactate to pyruvate.

Health Conditions Related to Genetic Changes

Lactate dehydrogenase deficiency

More than 15 mutations in the LDHB gene have been identified as causes of lactate dehydrogenase-B deficiency. This condition results in a decrease in functional lactate dehydrogenase enzyme activity. However, unlike lactate dehydrogenase-A deficiency, this condition does not appear to cause any physical signs or symptoms. It remains unclear why the deficiency of this specific enzyme subunit does not result in observable health problems.

Other Names for This Gene

  • L-lactate dehydrogenase B chain
  • lactate dehydrogenase H chain
  • LDH heart subunit
  • LDH-B
  • LDH-H
  • LDHB_HUMAN
  • LDHBD

Genomic Location

The LDHB gene is found on chromosome 12.

Frequently Asked Questions

Most people with LDHB deficiency do not experience noticeable symptoms, so the condition is often found incidentally during routine blood tests that measure lactate dehydrogenase (LDH) activity. If a deficiency is suspected, a specialized enzymatic assay or genetic sequencing of the LDHB gene can confirm the diagnosis.
Currently, there is no targeted therapy for LDHB deficiency. Management focuses on general cardiovascular health: maintaining a heart‑healthy diet, regular moderate exercise, and routine monitoring of cardiac function if symptoms arise.
LDHB mutations are typically inherited in an autosomal recessive pattern, meaning both parents must carry a mutation for a child to be affected. If a mutation is identified, first‑degree relatives can be offered genetic counseling and testing to determine carrier status and assess any potential health implications.
Because the LDHB subunit is highly expressed in cardiac muscle, a severe deficiency could theoretically impair the heart’s ability to convert lactate back to pyruvate during intense exercise. In practice, most reported cases are asymptomatic, but patients with unexplained fatigue or exercise intolerance should discuss LDH testing with their clinician.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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