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Genetics Home Reference: your guide to understanding genetic conditions
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PDCD10

Reviewed November 2012

What is the official name of the PDCD10 gene?

The official name of this gene is “programmed cell death 10.”

PDCD10 is the gene's official symbol. The PDCD10 gene is also known by other names, listed below.

What is the normal function of the PDCD10 gene?

The PDCD10 gene (also known as CCM3) provides instructions for making a protein that appears to play a role in the structure of blood vessels. While the exact function of the PDCD10 protein is unclear, studies suggest that it works with other proteins to help strengthen the interactions between cells and limit leakage from blood vessels. This protein is also thought to be involved in pathways that signal cells to self-destruct (undergo apoptosis) when they have completed a certain number of cell divisions or accumulated errors in their DNA.

How are changes in the PDCD10 gene related to health conditions?

cerebral cavernous malformation - caused by mutations in the PDCD10 gene

More than a dozen mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in single DNA building blocks (nucleotides). These mutations result in an abnormal or absent PDCD10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.

Mutations in the PDCD10 gene account for approximately 10 percent of familial cerebral cavernous malformation cases.

Where is the PDCD10 gene located?

Cytogenetic Location: 3q26.1

Molecular Location on chromosome 3: base pairs 167,683,734 to 167,734,901

The PDCD10 gene is located on the long (q) arm of chromosome 3 at position 26.1.

The PDCD10 gene is located on the long (q) arm of chromosome 3 at position 26.1.

More precisely, the PDCD10 gene is located from base pair 167,683,734 to base pair 167,734,901 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 PDCD10?

You and your healthcare professional may find the following resources about PDCD10 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 PDCD10 gene or gene products?

  • apoptosis-related protein 15
  • CCM3
  • cerebral cavernous malformation 3
  • PDC10_HUMAN
  • TFAR15

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 PDCD10?

apoptosis ; cavernous ; cell ; deletion ; DNA ; familial ; gene ; malformation ; protein

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

References

  • Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E; Société Française de Neurochirurgie. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005 Jan;76(1):42-51. Epub 2004 Nov 12. (http://www.ncbi.nlm.nih.gov/pubmed/15543491?dopt=Abstract)
  • Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998 Nov;7(12):1851-8. (http://www.ncbi.nlm.nih.gov/pubmed/9811928?dopt=Abstract)
  • Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M. Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 2005 Nov;57(5):1008-13. (http://www.ncbi.nlm.nih.gov/pubmed/16284570?dopt=Abstract)
  • Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat. 2006 Jan;27(1):118. (http://www.ncbi.nlm.nih.gov/pubmed/16329096?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11235)
  • Plummer NW, Zawistowski JS, Marchuk DA. Genetics of cerebral cavernous malformations. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16131422?dopt=Abstract)
  • OMIM: PROGRAMMED CELL DEATH 10 (http://omim.org/entry/609118)
  • Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA. CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology. 2005 Dec 27;65(12):1982-3. (http://www.ncbi.nlm.nih.gov/pubmed/16380626?dopt=Abstract)
  • Voss K, Stahl S, Schleider E, Ullrich S, Nickel J, Mueller TD, Felbor U. CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. Neurogenetics. 2007 Nov;8(4):249-56. Epub 2007 Jul 27. (http://www.ncbi.nlm.nih.gov/pubmed/17657516?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: November 2012
Published: September 8, 2014