Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

DNAH5

Reviewed August 2010

What is the official name of the DNAH5 gene?

The official name of this gene is “dynein, axonemal, heavy chain 5.”

DNAH5 is the gene's official symbol. The DNAH5 gene is also known by other names, listed below.

What is the normal function of the DNAH5 gene?

The DNAH5 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.

Within the core of cilia (the axoneme), dynein complexes are part of structures known as inner dynein arms (IDAs) or outer dynein arms (ODAs) depending on their location. Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. IDAs and ODAs have different combinations of protein components (subunits) that are classified by weight as heavy, intermediate, or light chains. The DNAH5 gene provides instructions for making heavy chain 5, which is found in ODAs. Other subunits are produced from different genes.

Does the DNAH5 gene share characteristics with other genes?

The DNAH5 gene belongs to a family of genes called DN (axonemal dyneins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the DNAH5 gene related to health conditions?

primary ciliary dyskinesia - caused by mutations in the DNAH5 gene

At least 62 mutations in the DNAH5 gene have been found to cause primary ciliary dyskinesia. These mutations result in an absent or abnormal heavy chain 5. Without a normal version of this subunit, the ODAs cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force needed to bend back and forth. Defective cilia are responsible for the features of primary ciliary dyskinesia, including respiratory tract infections, abnormal organ placement, and an inability to have children (infertility).

Where is the DNAH5 gene located?

Cytogenetic Location: 5p15.2

Molecular Location on chromosome 5: base pairs 13,690,436 to 13,944,588

The DNAH5 gene is located on the short (p) arm of chromosome 5 at position 15.2.

The DNAH5 gene is located on the short (p) arm of chromosome 5 at position 15.2.

More precisely, the DNAH5 gene is located from base pair 13,690,436 to base pair 13,944,588 on chromosome 5.

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 DNAH5?

You and your healthcare professional may find the following resources about DNAH5 helpful.

  • Educational resources - Information pages
    Molecular Cell Biology (fourth edition, 2000): Cilia and Flagella: Structure and Movement (http://www.ncbi.nlm.nih.gov/books/NBK21698/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for DNAH5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1767%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=(DNAH5%5BTIAB%5D)%20OR%20(DNAHC5%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/603335)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1767)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1767)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2950)

What other names do people use for the DNAH5 gene or gene products?

  • axonemal beta dynein heavy chain 5
  • CILD3
  • ciliary dynein heavy chain 5
  • DNAHC5
  • DYH5_HUMAN
  • dynein, axonemal, heavy polypeptide 5
  • dynein heavy chain 5, axonemal
  • FLJ46759
  • HL1
  • KIAA1603

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 DNAH5?

cell ; dyskinesia ; gene ; infertility ; protein ; respiratory ; subunit

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/1767)
  • Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19410201?dopt=Abstract)
  • Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet. 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176. (http://www.ncbi.nlm.nih.gov/pubmed/19357118?dopt=Abstract)
  • Gene Review: Primary Ciliary Dyskinesia (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd)
  • Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20. (http://www.ncbi.nlm.nih.gov/pubmed/16627867?dopt=Abstract)
  • Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19606528?dopt=Abstract)
  • Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet. 2002 Feb;30(2):143-4. Epub 2002 Jan 14. (http://www.ncbi.nlm.nih.gov/pubmed/11788826?dopt=Abstract)
  • OMIM: DYNEIN, AXONEMAL, HEAVY CHAIN 5 (http://omim.org/entry/603335)

 

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 2010
Published: May 13, 2013