DNAH5
MIM.603335 5p15-p14
DYneins
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains.
The dynein heavy chains (DNAHs) are responsible for force production and ATPase activity and contain a highly conserved catalytic domain with 4 P-loop consensus motifs involved in nucleotide binding.
Two major classes of dyneins, axonemal dyneins and cytoplasmic dyneins, have been identified.
Pathology
germline mutations in
- primary ciliary dyskinesia (MIM.608644)
- Kartagener syndrome (MIM.244400)
See also
DNAHs (dynein heavy chains)
- DNAH1 (MIM.603332), DNAH2, DNAH3, DNAH4, DNAH5, DNAH6 (MIM.603336), DNAH7, DNAH8, DHAH9 (MIM.603338), DNAH10, DNAH11, DNAH12 (MIM.603340), DNAH13, and DNAH14