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Reviewed July 2007

What is the official name of the PCCA gene?

The official name of this gene is “propionyl CoA carboxylase, alpha polypeptide.”

PCCA is the gene's official symbol. The PCCA 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 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 100,089,014 to 100,530,436

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 100,089,014 to base pair 100,530,436 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 Coenzyme A carboxylase, alpha polypeptide

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 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.

See also Understanding Medical Terminology.

References (5 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 2007
Published: March 23, 2015