Dynein, Axonemal, Heavy Chain 5 (DNAH5)

DNAH5 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. The composite transcript contained an open reading frame of 13,872 nucleotides, encoding a deduced 4,624-amino acid protein.

Mouse Dnah5 shares 91% sequence identity to the human homolog, detected strong expression of a 14-kb transcript in lung and kidney and weaker expression in brain, heart, and testis. In situ hybridization to whole mouse embryos detected weak expression confined to the node from 7.0 to 8.25 dpc.