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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.
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.
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.
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).
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.
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.
You and your healthcare professional may find the following resources about DNAH5 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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).
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.