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Genetics Home Reference: your guide to understanding genetic conditions
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PDP1

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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 93,916,854 to 93,926,067

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 93,916,854 to base pair 93,926,067 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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
  • PDP1_HUMAN
  • 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Biochemistry (fifth edition, 2002): The Formation of Acetyl Coenzyme A from Pyruvate (http://www.ncbi.nlm.nih.gov/books/NBK22427/)
  • Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. (http://www.ncbi.nlm.nih.gov/pubmed/19184109?dopt=Abstract)
  • Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. Epub 2005 Apr 26. (http://www.ncbi.nlm.nih.gov/pubmed/15855260?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/54704)
  • OMIM: PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 1 (http://omim.org/entry/605993)
  • Roche TE, Hiromasa Y, Turkan A, Gong X, Peng T, Yan X, Kasten SA, Bao H, Dong J. Essential roles of lipoyl domains in the activated function and control of pyruvate dehydrogenase kinases and phosphatase isoform 1. Eur J Biochem. 2003 Mar;270(6):1050-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12631265?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2012
Published: October 20, 2014