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Genetics Home Reference: your guide to understanding genetic conditions
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CDAN1

Reviewed July 2009

What is the official name of the CDAN1 gene?

The official name of this gene is “codanin 1.”

CDAN1 is the gene's official symbol. The CDAN1 gene is also known by other names, listed below.

What is the normal function of the CDAN1 gene?

The CDAN1 gene provides instructions for making a protein called codanin-1. Although this protein is active in cells throughout the body, very little is known about its function.

A recent study suggests that codanin-1 is associated with a form of DNA called heterochromatin. Heterochromatin is densely packed DNA that contains few functional genes, but it plays an important role in maintaining the structure of the nucleus (where most of the cell's DNA is located).

Researchers speculate that codanin-1 may be involved in the formation of red blood cells, a process called erythropoiesis. Specifically, this protein may play a key role in the organization of heterochromatin during the division of these developing cells.

How are changes in the CDAN1 gene related to health conditions?

congenital dyserythropoietic anemia - caused by mutations in the CDAN1 gene

More than 30 mutations in the CDAN1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type I. Most of these mutations change single protein building blocks (amino acids) in the codanin-1 protein. The CDAN1 mutations that cause CDA type I likely reduce the function of codanin-1. However, researchers suspect that these mutations do not completely eliminate the function of the protein, which appears to be essential for life.

It is unclear how CDAN1 mutations cause the characteristic features of CDA type I. A shortage of functional codanin-1 somehow disrupts the normal development of red blood cells. In people with CDA type I, immature red blood cells called erythroblasts are large, unusually shaped, and have an abnormally formed nucleus. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs.

Where is the CDAN1 gene located?

Cytogenetic Location: 15q15.2

Molecular Location on chromosome 15: base pairs 43,015,759 to 43,029,416

The CDAN1 gene is located on the long (q) arm of chromosome 15 at position 15.2.

The CDAN1 gene is located on the long (q) arm of chromosome 15 at position 15.2.

More precisely, the CDAN1 gene is located from base pair 43,015,759 to base pair 43,029,416 on chromosome 15.

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 CDAN1?

You and your healthcare professional may find the following resources about CDAN1 helpful.

  • Educational resources - Information pages
    Molecular Biology of the Cell (fourth edition, 2002): Heterochromatin Is Highly Organized and Usually Resistant to Gene Expression (http://www.ncbi.nlm.nih.gov/books/NBK26847/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK5313/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for CDAN1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=146059%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=((CDAN1%5BTIAB%5D)%20OR%20(codanin-1%5BTIAB%5D)%20OR%20(codanin%201%5BTIAB%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/607465)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/146059)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=146059)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1713)

What other names do people use for the CDAN1 gene or gene products?

  • CDA1
  • CDAI
  • CDA-I
  • CDAN1_HUMAN
  • codanin
  • congenital dyserythropoietic anemia, type I
  • DLT
  • PRO1295

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 CDAN1?

acids ; anemia ; cell ; cell cycle ; congenital ; DNA ; erythrocyte ; erythropoiesis ; gene ; hepatosplenomegaly ; heterochromatin ; iron ; nucleus ; 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

  • Ahmed MR, Chehal A, Zahed L, Taher A, Haidar J, Shamseddine A, O'Hea AM, Bienz N, Dgany O, Avidan N, Beckmann JS, Tamary H, Higgs D, Vyas P, Wood WG, Wickramasinghe SN. Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. Blood. 2006 Jun 15;107(12):4968-9. (http://www.ncbi.nlm.nih.gov/pubmed/16754775?dopt=Abstract)
  • Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002 Dec;71(6):1467-74. Epub 2002 Nov 14. (http://www.ncbi.nlm.nih.gov/pubmed/12434312?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/146059)
  • Noy-Lotan S, Dgany O, Lahmi R, Marcoux N, Krasnov T, Yissachar N, Ginsberg D, Motro B, Resnitzky P, Yaniv I, Kupfer GM, Tamary H. Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. Haematologica. 2009 May;94(5):629-37. doi: 10.3324/haematol.2008.003327. Epub 2009 Mar 31. (http://www.ncbi.nlm.nih.gov/pubmed/19336738?dopt=Abstract)
  • Renella R, Wood WG. The congenital dyserythropoietic anemias. Hematol Oncol Clin North Am. 2009 Apr;23(2):283-306. doi: 10.1016/j.hoc.2009.01.010. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19327584?dopt=Abstract)
  • Tamary H, Dgany O, Proust A, Krasnov T, Avidan N, Eidelitz-Markus T, Tchernia G, Geneviève D, Cormier-Daire V, Bader-Meunier B, Ferrero-Vacher C, Munzer M, Gruppo R, Fibach E, Konen O, Yaniv I, Delaunay J. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol. 2005 Aug;130(4):628-34. (http://www.ncbi.nlm.nih.gov/pubmed/16098079?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: July 2009
Published: May 20, 2013