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Genetics Home Reference: your guide to understanding genetic conditions
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CP

Reviewed April 2008

What is the official name of the CP gene?

The official name of this gene is “ceruloplasmin (ferroxidase).”

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

What is the normal function of the CP gene?

The CP gene provides instructions for making a protein called ceruloplasmin. Ceruloplasmin helps move iron from the organs and tissues of the body into the blood. This protein prepares iron for incorporation into a molecule called transferrin, which transports the iron to red blood cells.

There are two forms of ceruloplasmin. One form, serum ceruloplasmin, is made primarily in the liver. It is involved in transporting iron from most of the body, but is unable to enter the brain. The other form of ceruloplasmin, called the glycosylphosphatidylinositol (GPI)-anchored form, is important for processing iron in the brain and releasing it from brain tissue. This form of ceruloplasmin is made in nervous system cells called glia, which protect and maintain nerve cells (neurons).

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

aceruloplasminemia - caused by mutations in the CP gene

Approximately 40 mutations in the CP gene that cause aceruloplasminemia have been identified. Some of these mutations substitute one protein building block (amino acid) for another amino acid in the ceruloplasmin protein, resulting in an unstable protein that quickly breaks down (degrades). Other mutations result in the production of an abnormally short, nonfunctional version of the protein or prevent the protein from being secreted by the cells in which it is made. Absence of functional ceruloplasmin results in iron transport problems that lead to the iron accumulation, neurological dysfunction, and other health problems seen in aceruloplasminemia.

Where is the CP gene located?

Cytogenetic Location: 3q23-q25

Molecular Location on chromosome 3: base pairs 148,880,196 to 148,939,831

The CP gene is located on the long (q) arm of chromosome 3 between positions 23 and 25.

The CP gene is located on the long (q) arm of chromosome 3 between positions 23 and 25.

More precisely, the CP gene is located from base pair 148,880,196 to base pair 148,939,831 on chromosome 3.

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 CP?

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1493/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for CP (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356%5Bgeneid%5D)

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=((CP%5BTIAB%5D)%20OR%20(ceruloplasmin%5BTIAB%5D))%20AND%20((alpha(2)-ceruloplasmin%5BMAJR%5D)%20OR%20(ferroxidase%5BMAJR%5D)%20OR%20(ceruloplasmin%5BMAJR%5D)%20OR%20(ceruloplasmin%20oxidase%5BMAJR%5D)%20OR%20(ceruloplasmin%20ferroxidase%5BMAJR%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/117700)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CP.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1356)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1356)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2295)

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

  • CERU_HUMAN
  • ceruloplasmin
  • CP-2
  • ferroxidase

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 CP?

amino acid ; gene ; glia ; glycosylphosphatidylinositol ; iron ; molecule ; nervous system ; neurological ; protein ; tissue ; transferrin

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

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1356)
  • Hellman NE, Gitlin JD. Ceruloplasmin metabolism and function. Annu Rev Nutr. 2002;22:439-58. Epub 2002 Apr 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12055353?dopt=Abstract)
  • Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia. Biol Res. 2006;39(1):15-23. (http://www.ncbi.nlm.nih.gov/pubmed/16629161?dopt=Abstract)
  • Kono S, Suzuki H, Oda T, Miyajima H, Takahashi Y, Shirakawa K, Ishikawa K, Kitagawa M. Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. Neuromolecular Med. 2006;8(3):361-74. (http://www.ncbi.nlm.nih.gov/pubmed/16775387?dopt=Abstract)
  • Kono S, Suzuki H, Oda T, Shirakawa K, Takahashi Y, Kitagawa M, Miyajima H. Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. J Hepatol. 2007 Dec;47(6):844-50. Epub 2007 Jun 18. (http://www.ncbi.nlm.nih.gov/pubmed/17637479?dopt=Abstract)
  • Nittis T, Gitlin JD. The copper-iron connection: hereditary aceruloplasminemia. Semin Hematol. 2002 Oct;39(4):282-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12382203?dopt=Abstract)
  • OMIM: CERULOPLASMIN (http://omim.org/entry/117700)
  • Vassiliev V, Harris ZL, Zatta P. Ceruloplasmin in neurodegenerative diseases. Brain Res Brain Res Rev. 2005 Nov;49(3):633-40. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16269323?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: April 2008
Published: May 20, 2013