Aliases for DNAH1 Gene
External Ids for DNAH1 Gene
Previous GeneCards Identifiers for DNAH1 Gene
This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
GeneCards Summary for DNAH1 Gene
DNAH1 (Dynein Axonemal Heavy Chain 1) is a Protein Coding gene. Diseases associated with DNAH1 include Ciliary Dyskinesia, Primary, 37 and Spermatogenic Failure 18. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH3.
UniProtKB/Swiss-Prot Summary for DNAH1 Gene
Force generating protein of cilia required for sperm flagellum motility. 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 in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805).