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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed August 2006

What is the official name of the PC gene?

The official name of this gene is “pyruvate carboxylase.”

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

What is the normal function of the PC gene?

The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells.

Pyruvate carboxylase is responsible for a chemical reaction that converts a molecule called pyruvate to another molecule called oxaloacetate. This reaction is essential for several different cellular functions. In the kidneys and liver, it is the first step in a process called gluconeogenesis. Gluconeogenesis generates glucose, a simple sugar that is the body's main energy source. This chemical reaction also occurs in the pancreas, where it helps regulate the secretion of a hormone called insulin. Insulin controls the amount of glucose in the blood that is passed into cells for conversion to energy.

In fat-storing (adipose) tissue, pyruvate carboxylase is involved in the formation of certain fats (lipogenesis). This enzyme also plays an important role in the nervous system, where it replenishes the building blocks needed to make brain chemicals called neurotransmitters. Additionally, pyruvate carboxylase is necessary for the formation of myelin, which is the fatty covering that insulates and protects certain nerve cells.

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

pyruvate carboxylase deficiency - caused by mutations in the PC gene

Only a few mutations in the PC gene have been identified in people with pyruvate carboxylase deficiency. Some of these mutations change a single protein building block (amino acid) in pyruvate carboxylase, which may reduce the amount of this enzyme in cells or disrupt its ability to effectively convert pyruvate to oxaloacetate. Other genetic changes lead to the production of an abnormally short version of the enzyme that is completely nonfunctional.

If pyruvate carboxylase is missing or altered, it cannot carry out its role in generating glucose. Any disruption in gluconeogenesis impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.

Where is the PC gene located?

Cytogenetic Location: 11q13.4-q13.5

Molecular Location on chromosome 11: base pairs 66,848,522 to 66,958,376

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The PC gene is located on the long (q) arm of chromosome 11 between positions 13.4 and 13.5.

The PC gene is located on the long (q) arm of chromosome 11 between positions 13.4 and 13.5.

More precisely, the PC gene is located from base pair 66,848,522 to base pair 66,958,376 on chromosome 11.

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

Where can I find additional information about PC?

You and your healthcare professional may find the following resources about PC 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 PC gene or gene products?

  • PCB
  • Pyruvic carboxylase

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding PC?

amino acid ; ammonia ; biotin ; carboxylase ; deficiency ; enzyme ; gene ; gluconeogenesis ; glucose ; hormone ; insulin ; lactic acid ; lipogenesis ; mitochondria ; molecule ; nervous system ; neurologic ; neurotransmitters ; pancreas ; protein ; secretion ; simple sugar ; tissue ; toxic

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


  • Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M. Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet. 1999 May 21;84(2):94-101. (
  • Carbone MA, Applegarth DA, Robinson BH. Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. Hum Mutat. 2002 Jul;20(1):48-56. (
  • Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet. 1998 Jun;62(6):1312-9. (
  • Jitrapakdee S, Vidal-Puig A, Wallace JC. Anaplerotic roles of pyruvate carboxylase in mammalian tissues. Cell Mol Life Sci. 2006 Apr;63(7-8):843-54. Review. (
  • NCBI Gene (
  • Pithukpakorn M. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab. 2005 Aug;85(4):243-6. Review. (
  • Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N. A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. Mol Genet Metab. 2006 Feb;87(2):175-7. Epub 2005 Dec 1. (
  • Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. Pediatr Res. 1998 May;43(5):579-84. (


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: August 2006
Published: February 8, 2016