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Genetics Home Reference: your guide to understanding genetic conditions
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PDCD10

Reviewed November 2006

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 (previously known as the CCM3 gene) provides the instructions for making a protein called programmed cell death 10. Although the exact function of this protein is unclear, researchers believe that it plays several roles in cells. This protein is thought to be involved in pathways that signal cells to die when they have completed a certain number of cell divisions or accumulated errors in their DNA. This programmed cell death is called apoptosis. The programmed cell death 10 protein is also believed to be involved in the formation, maturation, and maintenance of blood vessels.

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

cerebral cavernous malformation - caused by mutations in the PDCD10 gene

Several types of mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in a single DNA building block (base pair). These mutations result in an absent or abnormal programmed cell death 10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.

Mutations in the recently identified PDCD10 gene account for 10 percent to 20 percent of familial cerebral cavernous malformation cases.

Where is the PDCD10 gene located?

Cytogenetic Location: 3q26.1

Molecular Location on chromosome 3: base pairs 167,401,693 to 167,452,650

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 167,401,693 to base pair 167,452,650 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.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ccm)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/156871)

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=((PDCD10%5BTIAB%5D)%20OR%20(programmed%20cell%20death%2010%5BTIAB%5D))%20OR%20(TFAR15%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/609118)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PDCD10.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/11235)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=11235)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=8761)

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 ; base pair ; cavernous ; cell ; cell division ; deletion ; DNA ; familial ; gene ; malformation ; mutation ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/11235)
  • 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)
  • OMIM: PROGRAMMED CELL DEATH 10 (http://omim.org/entry/609118)
  • 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)
  • 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)

 

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 2006
Published: May 21, 2012