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Genetics Home Reference: your guide to understanding genetic conditions
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CPT2

Reviewed August 2006

What is the official name of the CPT2 gene?

The official name of this gene is “carnitine palmitoyltransferase 2.”

CPT2 is the gene's official symbol. The CPT2 gene is also known by other names, listed below.

What is the normal function of the CPT2 gene?

The CPT2 gene provides instructions for making a liver enzyme called carnitine palmitoyl transferase 2. This enzyme helps release long-chain fatty acids from a particular transport enzyme. This chemical reaction occurs in the interior compartment of mitochondria, the energy-producing centers in cells. Long-chain fatty acids must then be joined to a naturally occurring substance called coenzyme A in order to produce energy. The carnitine palmitoyltransferase 2 enzyme facilitates the reaction that joins coenzyme A to long-chain fatty acids.

How are changes in the CPT2 gene related to health conditions?

carnitine palmitoyltransferase 2 deficiency - caused by mutations in the CPT2 gene

More than 40 mutations have been identified in people with carnitine palmitoyltransferase 2 deficiency. The most common causative mutation is the substitution of the amino acid (a building block of proteins) serine with the amino acid leucine at position 113 (written as Ser113Leu) in the enzyme. Most of the identified mutations are thought to cause the enzyme to be abnormally sensitive to substances that regulate its activity. The improperly regulated enzyme becomes less active and prevents cells from using certain fats for energy, which leads to the characteristic signs and symptoms of this disorder.

Where is the CPT2 gene located?

Cytogenetic Location: 1p32

Molecular Location on chromosome 1: base pairs 53,434,688 to 53,452,454

The CPT2 gene is located on the short (p) arm of chromosome 1 at position 32.

The CPT2 gene is located on the short (p) arm of chromosome 1 at position 32.

More precisely, the CPT2 gene is located from base pair 53,434,688 to base pair 53,452,454 on chromosome 1.

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 CPT2?

You and your healthcare professional may find the following resources about CPT2 helpful.

  • Educational resources - Information pages
    The Utilization of Fatty Acids as Fuel Requires Three Stages of Processing (Biochemistry, fifth edition, 2002) (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=stryer.section.3050#3054)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cpt2)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=3064)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((CPT2[TIAB])+OR+(carnitine+palmitoyltransferase+II[TIAB]))+OR+((CPT1[TIAB])+OR+(CPTASE[TIAB]))+AND+((Genes[MH])+OR+(Genetic+Phenomena[MH]))+AND+english[la]+AND+human[mh]+AND+"last+1800+days"[dp])
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650)
  • Research Resources - Tools for researchers
    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CPT2.html)
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/1376)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2330)

What other names do people use for the CPT2 gene or gene products?

  • CPT2_HUMAN
  • CPTASE
  • CPT II

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 CPT2?

acids ; amino acid ; carnitine ; cell ; coenzyme A ; deficiency ; enzyme ; fatty acids ; gene ; leucine ; mitochondria ; mutation ; oxidation ; protein ; serine ; sign ; substitution ; symptom ; transferase

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab. 1999 Dec;68(4):424-40. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10607472?dopt=Abstract)
  • Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005 Jan;62(1):37-41. (http://www.ncbi.nlm.nih.gov/pubmed/15642848?dopt=Abstract)
  • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/1376)
  • Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15;142(2):77-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16602102?dopt=Abstract)
  • Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis. 2003;26(6):543-57. (http://www.ncbi.nlm.nih.gov/pubmed/14605500?dopt=Abstract)
  • OMIM (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650)
  • Orngreen MC, Duno M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann Neurol. 2005 Jan;57(1):60-6. (http://www.ncbi.nlm.nih.gov/pubmed/15622536?dopt=Abstract)
  • Ramsay RR, Gandour RD, van der Leij FR. Molecular enzymology of carnitine transfer and transport. Biochim Biophys Acta. 2001 Mar 9;1546(1):21-43. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11257506?dopt=Abstract)
  • Ramsay RR, Zammit VA. Carnitine acyltransferases and their influence on CoA pools in health and disease. Mol Aspects Med. 2004 Oct-Dec;25(5-6):475-93. (http://www.ncbi.nlm.nih.gov/pubmed/15363637?dopt=Abstract)
  • Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003 Nov;83(11):1543-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14615409?dopt=Abstract)
  • van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B. Genomics of the human carnitine acyltransferase genes. Mol Genet Metab. 2000 Sep-Oct;71(1-2):139-53. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11001805?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: August 2006
Published: November 20, 2009