DNAH11 gene
The DNAH11 gene provides instructions for a protein component of dynein, a complex essential for the movement of cilia throughout the body.
Normal Function
The DNAH11 gene provides instructions for making a protein that is part of a larger group of proteins called dynein. This complex functions within cell structures called cilia—microscopic, finger-like projections found on the surface of cells in the airway, reproductive system, and other organs. Coordinated back-and-forth movement of cilia moves the cell or the fluid surrounding it.
Dynein forms structures known as inner dynein arms (IDAs) and outer dynein arms (ODAs) within the core of many cilia (the axoneme). The DNAH11 gene specifically provides instructions for the heavy chain 11 protein, which is found in ODAs. Coordinated movement of these dynein arms provides the force necessary for the axoneme to bend.
Health Conditions Related to Genetic Changes
Primary ciliary dyskinesia
Variants in the DNAH11 gene cause primary ciliary dyskinesia, a condition characterized by respiratory tract infections, abnormally placed internal organs, and decreased fertility. These variants lead to a reduction in functional heavy chain 11 proteins.
- Without this subunit, dynein cannot assemble normally.
- The outer dynein arms may be shorter than usual or absent.
- As a result, cilia cannot produce the force needed to bend, leading to the symptoms associated with the condition.
Heterotaxy syndrome
Variants in the DNAH11 gene have also been associated with heterotaxy syndrome, a condition involving the abnormal placement of internal organs.
Other Names for This Gene
- DNAHBL
- DNAHC11
- DPL11
- dynein heavy chain beta-like
- dynein, axonemal, heavy polypeptide 11
- dynein, ciliary, heavy chain 11
Genomic Location
The DNAH11 gene is found on chromosome 7.