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Reviewed July 2012

What is the official name of the PDP1 gene?

The official name of this gene is “pyruvate dehydrogenase phosphatase catalytic subunit 1.”

PDP1 is the gene's official symbol. The PDP1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PDP1 gene?

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.

Does the PDP1 gene share characteristics with other genes?

The PDP1 gene belongs to a family of genes called serine/threonine phosphatases (serine/threonine phosphatases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the PDP1 gene related to health conditions?

pyruvate dehydrogenase deficiency - caused by mutations in the PDP1 gene

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 of this complex, pyruvate builds up and is converted, in another chemical reaction, 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.

Where is the PDP1 gene located?

Cytogenetic Location: 8q22.1

Molecular Location on chromosome 8: base pairs 93,916,855 to 93,926,068

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The PDP1 gene is located on the long (q) arm of chromosome 8 at position 22.1.

The PDP1 gene is located on the long (q) arm of chromosome 8 at position 22.1.

More precisely, the PDP1 gene is located from base pair 93,916,855 to base pair 93,926,068 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PDP1?

You and your healthcare professional may find the following resources about PDP1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PDP1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PDP1?

acidosis ; adenosine triphosphate ; amino acid ; ATP ; breakdown ; catalytic ; cell ; CoA ; deficiency ; dehydrogenase ; enzyme ; gene ; lactic acid ; lactic acidosis ; molecule ; mutation ; neurological ; oxygen ; phosphatase ; phosphate ; phosphorus ; protein ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: July 2012
Published: February 8, 2016