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DNAH11 gene
URL of this page: https://medlineplus.gov/genetics/gene/dnah11/

DNAH11 gene

dynein axonemal heavy chain 11

Normal Function

The DNAH11 gene provides instructions for making a protein that is part of a larger group (a complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out (project) 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 DNAH11 gene provides instructions for making the heavy chain 11 protein, which is found in ODAs. Other subunits are produced from different genes.

Health Conditions Related to Genetic Changes

Primary ciliary dyskinesia

Variants (also called mutations) in the DNAH11 gene have been found to cause primary ciliary dyskinesia, which is characterized by respiratory tract infections, abnormally placed internal organs, and difficulties having biological children (decreased fertility). DNAH11 gene variants cause cells to produce fewer functional heavy chain 11 proteins. Without this subunit, dynein cannot assemble normally, and the ODAs may be shorter than usual or absent. As a result, cilia cannot produce the force needed to bend back and forth, which leads to the various features of primary ciliary dyskinesia.

More About This Health Condition

Heterotaxy syndrome

MedlinePlus Genetics provides information about Heterotaxy syndrome

More About This Health Condition

Other Names for This Gene

  • DNAHBL
  • DNAHC11
  • DPL11
  • dynein heavy chain beta-like
  • dynein, axonemal, heavy polypeptide 11
  • dynein, ciliary, heavy chain 11

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells. 2024 Jun 4;13(11):974. doi: 10.3390/cells13110974. Citation on PubMed
  • Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18. 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
  • Schultz R, Elenius V, Lukkarinen H, Saarela T. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. BMC Med Genet. 2020 Nov 26;21(1):237. doi: 10.1186/s12881-020-01171-2. 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
  • Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ. Primary Ciliary Dyskinesia. Pediatrics. 2024 Jun 1;153(6):e2023063064. doi: 10.1542/peds.2023-063064. 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

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