Aliases for DNAH5 Gene
External Ids 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 primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia. 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