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


Reviewed July 2007

What is the official name of the PCCA gene?

The official name of this gene is “propionyl-CoA carboxylase alpha subunit.”

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

What is the normal function of the PCCA gene?

The PCCA gene provides instructions for making part of an enzyme called propionyl-CoA carboxylase, specifically, the alpha subunit of this enzyme. Six alpha subunits come together with six beta subunits (produced from the PCCB gene) to form a functioning enzyme. The alpha subunit also includes a region for binding to the B vitamin biotin.

Propionyl-CoA carboxylase plays a role in the normal processing of proteins. It is responsible for a particular step in the breakdown of several protein building blocks (amino acids) called isoleucine, methionine, threonine, and valine. Propionyl-CoA carboxylase also helps break down certain types of lipids (fats) and cholesterol. First, several chemical reactions convert the amino acids, lipids, or cholesterol to a molecule called propionyl-CoA. Using biotin, propionyl-CoA carboxylase then converts propionyl-CoA to a molecule called methylmalonyl-CoA. Additional enzymes break down methylmalonyl-CoA into other molecules that are used for energy.

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

propionic acidemia - caused by mutations in the PCCA gene

More than 45 mutations in the PCCA gene have been identified in people with propionic acidemia. These mutations include changes in single DNA building blocks (nucleotides) and insertions or deletions of genetic material in the PCCA gene. PCCA mutations prevent the production of functional propionyl-CoA carboxylase or reduce the enzyme's activity. The altered or missing enzyme is unable to process certain parts of proteins and lipids properly. As a result, propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.

Where is the PCCA gene located?

Cytogenetic Location: 13q32

Molecular Location on chromosome 13: base pairs 100,089,015 to 100,530,437

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

The PCCA gene is located on the long (q) arm of chromosome 13 at position 32.

The PCCA gene is located on the long (q) arm of chromosome 13 at position 32.

More precisely, the PCCA gene is located from base pair 100,089,015 to base pair 100,530,437 on chromosome 13.

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

Where can I find additional information about PCCA?

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

  • PCCase alpha subunit
  • propionyl-CoA:carbon dioxide ligase alpha subunit
  • propionyl CoA carboxylase, alpha polypeptide
  • propionyl Coenzyme A carboxylase, alpha polypeptide

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

What glossary definitions help with understanding PCCA?

acids ; biotin ; breakdown ; carboxylase ; cholesterol ; CoA ; coenzyme A ; DNA ; enzyme ; gene ; isoleucine ; ligase ; methionine ; molecule ; nervous system ; protein ; subunit ; threonine ; toxic ; valine

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


  • Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR. Functional characterization of PCCA mutations causing propionic acidemia. Biochim Biophys Acta. 2002 Nov 20;1588(2):119-25. (
  • Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B. New splicing mutations in propionic acidemia. J Hum Genet. 2006;51(11):992-7. Epub 2006 Oct 19. (
  • Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M. Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. Review. (
  • NCBI Gene (
  • Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab. 2003 Jan;78(1):59-67. (


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 2007
Published: February 1, 2016