DNAH9

This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined.

Dynein Axonemal Heavy Chain 9

Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718).

Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Cell projection organization Source: UniProtKB-KW
Cilium movement Source: UniProtKB
Microtubule-based movement Source: GO_Central

Cilium axoneme. Found in the distal portion of ciliary axoneme.

Ciliary dyskinesia, primary, 40 (CILD40):
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive.