Meyahealth
Home
ENES
HomeGeneticsGenePDP1 gene
Back to Gene

PDP1 gene

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

PDP1 gene

The PDP1 gene provides instructions for making a protein that activates the pyruvate dehydrogenase complex, a vital part of the body's energy production process.

Normal Function

The PDP1 gene provides instructions for making a protein called pyruvate dehydrogenase phosphatase 1, which is part of a large group of proteins called the pyruvate dehydrogenase complex. The pyruvate dehydrogenase phosphatase 1 protein turns on (activates) the complex by removing a phosphate group (a cluster of oxygen and phosphorus atoms) from the complex.

The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This enzyme converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.

Health Conditions Related to Genetic Changes

Pyruvate dehydrogenase deficiency

At least one mutation in the PDP1 gene has been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the PDP1 gene is a very rare cause of this condition. Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems.

The identified mutation removes one protein building block (amino acid) of the pyruvate dehydrogenase phosphatase 1 protein, which is thought to change its shape. The abnormal protein cannot remove the phosphate group from the pyruvate dehydrogenase complex, which reduces the activity of the complex. With decreased activity, pyruvate builds up and is converted to lactic acid, causing lactic acidosis. In addition, the production of cellular energy is diminished. The brain, which is especially dependent on this form of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.

Other Names for This Gene

  • PDH
  • PDP
  • PDP 1
  • PDP1_HUMAN
  • PDPC
  • PDPC 1
  • PPM2C
  • protein phosphatase 2C, magnesium-dependent, catalytic subunit
  • pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase
  • pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
  • pyruvate dehyrogenase phosphatase catalytic subunit 1

Frequently Asked Questions

PDP1 encodes pyruvate dehydrogenase phosphatase 1, which removes an inhibitory phosphate from the complex. A mutation that deletes an amino acid can alter the enzyme’s shape, preventing it from dephosphorylating the complex. Consequently, the complex remains in an inactive, phosphorylated state, reducing conversion of pyruvate to acetyl‑CoA and leading to lactate buildup.
High‑carbohydrate meals and prolonged fasting increase pyruvate production, overwhelming the impaired complex and raising lactate levels. Patients should maintain a balanced diet with moderate carbohydrate intake, avoid large glucose loads, and consider a low‑glycemic or ketogenic diet under medical supervision.
Thiamine is a cofactor for the pyruvate dehydrogenase complex. While PDP1 mutations affect phosphatase activity rather than thiamine binding, high‑dose thiamine can sometimes enhance residual enzyme function and reduce lactate. Clinical response varies, so supplementation should be monitored by a metabolic specialist.
Initial screening involves measuring plasma lactate and the lactate/pyruvate ratio. A muscle biopsy can assess pyruvate dehydrogenase activity and phosphorylation status. Definitive diagnosis requires sequencing the PDP1 gene to identify pathogenic variants.
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.