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Genetics Home Reference: your guide to understanding genetic conditions
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CPT1A

Reviewed August 2006

What is the official name of the CPT1A gene?

The official name of this gene is “carnitine palmitoyltransferase 1A (liver).”

CPT1A is the gene's official symbol. The CPT1A gene is also known by other names, listed below.

What is the normal function of the CPT1A gene?

The CPT1A gene provides instructions for making a liver enzyme called carnitine palmitoyl transferase I. This enzyme assists in the transport of certain fats, called long-chain fatty acids, into the energy-producing centers in the cell (mitochondria). This process is necessary for these fats to be broken down for energy. Long-chain fatty acids must be joined to a naturally occurring substance called carnitine for entry into the mitochondria. Carnitine palmitoyl transferase I connects the long-chain fatty acids to carnitine to promote this transport process.

How are changes in the CPT1A gene related to health conditions?

carnitine palmitoyltransferase I deficiency - caused by mutations in the CPT1A gene

More than 20 mutations responsible for carnitine palmitoyltransferase I deficiency have been identified in the CPT1A gene. Most of these mutations lead to the improper substitution of one amino acid (a building block of proteins) for another amino acid in carnitine palmitoyl transferase I. These mutations reduce or eliminate the ability of this enzyme to transport long-chain fatty acids into the mitochondria for energy production. As a result, the ability of cells to use these fats for energy is greatly reduced, leading to the signs and symptoms of this disorder such as weakness, an enlarged liver (hepatomegaly), and low blood sugar (hypoglycemia).

other disorders - associated with the CPT1A gene

CPT1A mutations appear to increase the risk of a serious liver disorder that can develop in women during pregnancy. This disorder, acute fatty liver of pregnancy, begins with abdominal pain and can rapidly progress to liver failure. Signs of acute fatty liver of pregnancy include an abnormal accumulation of fat in the liver, low blood sugar (hypoglycemia), increased levels of ammonia in the blood (hyperammonemia), and abnormalities in liver enzymes. A small percentage of women who have a mutation in one copy of the CPT1A gene in each cell and are carrying a fetus with mutations in both copies of the CPT1A gene develop this maternal liver disease.

Where is the CPT1A gene located?

Cytogenetic Location: 11q13.1-q13.2

Molecular Location on chromosome 11: base pairs 68,278,663 to 68,365,849

The CPT1A gene is located on the long (q) arm of chromosome 11 between positions 13.1 and 13.2.

The CPT1A gene is located on the long (q) arm of chromosome 11 between positions 13.1 and 13.2.

More precisely, the CPT1A gene is located from base pair 68,278,663 to base pair 68,365,849 on chromosome 11.

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 CPT1A?

You and your healthcare professional may find the following resources about CPT1A helpful.

  • Educational resources - Information pages
    • Acute Fatty Liver of Pregnancy (University of Virginia Health System) (http://www.healthsystem.virginia.edu/uvahealth/peds_hrpregnant/liver.cfm)
    • 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=cpt1a)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=68896)

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=((CPT1A[TIAB])+OR+(carnitine+palmitoyltransferase+1A[TIAB]))+OR+((carnitine+palmitoyltransferase+1A[TIAB])+OR+(CPT1[TIAB])+OR+(CPT1-L[TIAB])+OR+(L-CPT1[TIAB])+OR+(carnitine+palmitoyltransferase+I[TIAB])+OR+(carnitine+palmitoyltransferase+I,+liver[TIAB]))+AND+((Genes[MH])+OR+(Genetic+Phenomena[MH]))+AND+english[la]+AND+human[mh]+AND+"last+1080+days"[dp])
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528)
  • Research Resources - Tools for researchers
    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CPT1A.html)
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/1374)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT1A)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2328)

What other names do people use for the CPT1A gene or gene products?

  • carnitine palmitoyltransferase I, liver
  • CPT1
  • CPT1A_HUMAN
  • CPT1-L
  • L-CPT1

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 CPT1A?

acids ; acute ; amino acid ; ammonia ; carnitine ; cell ; deficiency ; enzyme ; fatty acids ; fatty liver ; fetus ; gene ; hyperammonemia ; hypoglycemia ; liver failure ; maternal ; mitochondria ; mutation ; oxidation ; protein ; 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
  • Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2004 May;82(1):59-63. (http://www.ncbi.nlm.nih.gov/pubmed/15110323?dopt=Abstract)
  • 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)
  • Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med. 2004 Oct-Dec;25(5-6):495-520. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15363638?dopt=Abstract)
  • Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res. 2001 Jul;42(7):1134-42. (http://www.ncbi.nlm.nih.gov/pubmed/11441142?dopt=Abstract)
  • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/1374)
  • Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug;111(2):179-89. Epub 2002 Jul 16. (http://www.ncbi.nlm.nih.gov/pubmed/12189492?dopt=Abstract)
  • Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, Bonnefont JP, Girard J, Prip-Buus C. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. J Biol Chem. 2003 Dec 12;278(50):50428-34. Epub 2003 Sep 29. (http://www.ncbi.nlm.nih.gov/pubmed/14517221?dopt=Abstract)
  • 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)
  • OMIM (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528)
  • Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, Beischel L, Thuillier L, Prip-Buus C, Singal R, Thompson JR, Prasad AN, Buist N, Greenberg CR. Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. Mol Genet Metab. 2001 May;73(1):55-63. (http://www.ncbi.nlm.nih.gov/pubmed/11350183?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)
  • Stanley CA. Carnitine deficiency disorders in children. Ann N Y Acad Sci. 2004 Nov;1033:42-51. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15591002?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