Aliases for DNAH5 Gene
External Ids for DNAH5 Gene
Previous GeneCards Identifiers for DNAH5 Gene
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
GeneCards Summary for DNAH5 Gene
DNAH5 (Dynein Axonemal Heavy Chain 5) is a Protein Coding gene. Diseases associated with DNAH5 include Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH1.
UniProtKB/Swiss-Prot for DNAH5 Gene
Force generating protein of respiratory cilia. 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. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.