The DNAH5 gene provides instructions for making a protein that is part of a larger group of proteins (a complex) called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in cells that line the airway, the reproductive system, and many other organs and tissues. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein makes up the structures (arms) that produce the force needed for cilia to move.

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

Tests Listed in the Genetic Testing Registry

• Tests of DNAH5

Scientific Articles on PubMed

• PubMed

Catalog of Genes and Diseases from OMIM

• DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5

Gene and Variant Databases

• NCBI Gene
• ClinVar

• Djakow J, Svobodova T, Hrach K, Uhlik J, Cinek O, Pohunek P. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol. 2012 Sep;47(9):864-75. doi: 10.1002/ppul.22520. Epub 2012 Mar 13. Citation on PubMed
• Dong M, Shi X, Zhou Y, Duan J, He L, Song X, Huang Z, Chen R, Li J, Jia N. Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review. Orphanet J Rare Dis. 2025 Mar 3;20(1):97. doi: 10.1186/s13023-025-03596-5. Citation on PubMed
• 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. Citation on PubMed
• 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. Citation on PubMed
• Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nusslein 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. doi: 10.1164/rccm.200601-084OC. Epub 2006 Apr 20. Citation on PubMed or Free article on PubMed Central
• 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. Citation on PubMed or Free article on PubMed Central
• Lin HT, Gupta A, Bove KE, Szabo S, Xu F, Krentz A, Shillington AL. Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis. J Pediatr Genet. 2021 Aug 17;12(3):246-253. doi: 10.1055/s-0041-1733940. eCollection 2023 Sep. Citation on PubMed
• Olbrich H, Haffner K, Kispert A, Volkel 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. doi: 10.1038/ng817. Epub 2002 Jan 14. Citation on PubMed
• Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioglu N, Erdem E, Fonnesu R, Gracci S, Grosse-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Korner RW, Kotz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nothe-Menchen T, Ozcelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Zietkiewicz E, Nielsen KG, Omran H. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug. Citation on PubMed
• Sironen A, Shoemark A, Patel M, Loebinger MR, Mitchison HM. Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cell Mol Life Sci. 2020 Jun;77(11):2029-2048. doi: 10.1007/s00018-019-03389-7. Epub 2019 Nov 28. Citation on PubMed
• Zariwala MA, Despotes KA, Davis SD. Primary Ciliary Dyskinesia. 2007 Jan 24 [updated 2025 May 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1122/ Citation on PubMed