DNAH5 : dynein axonemal heavy chain 5
Description
The DNAH5 (dynein axonemal heavy chain 5) is a protein-coding gene located on chromosome 5.
The DNAH5 gene provides instructions for creating a protein that is part of a protein complex called dynein. This complex operates within cilia, which are microscopic finger-like projections extending from the cell surface. Cilia movement, coordinated back and forth, propels the cell or surrounding fluid. Dynein provides the force necessary for cilia movement. Within the cilia core (the axoneme), dynein complexes are found in structures called inner dynein arms (IDAs) or outer dynein arms (ODAs) based on their location. Coordinated movement of these dynein arms causes the entire axoneme to bend. IDAs and ODAs have different protein subunit combinations categorized by weight as heavy, intermediate, or light chains. DNAH5 codes for heavy chain 5, a component of ODAs. Other subunits are produced from separate genes.
DNAH5 encodes a protein that generates force in respiratory cilia, driving movement towards the minus ends of microtubules. This protein exhibits ATPase activity, with the force-producing power stroke believed to occur upon ADP release. It plays a crucial role in maintaining the structural and functional integrity of cilia within ependymal cells that line the brain ventricles.
DNAH5 is also known as CILD3, DNAHC5, HL1, KTGNR, PCD.
Associated Diseases
- Ciliary dyskinesia, primary, 3, with or without situs inversus
- Primary ciliary dyskinesia
- Heterotaxy syndrome
