dynein axonemal heavy chain 5
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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.
Normal function
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.
Conditions referring to this gene or chromosome
Otros nombres
DNAHC5
dynein heavy chain 5
dynein, axonemal, heavy chain 5
dynein, axonemal, heavy polypeptide 5
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Lecturas adicionales y referencias
- dynein axonemal heavy chain 5; MedlinePlus, National Library of Medicine.
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- 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.
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- 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.
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