Dynein axonemal heavy chain 6 (DNAH6)

Dynein axonemal heavy chain 6 (DNAH6) is a large motor protein expressed primarily in ciliated tissues such as the testis, ovary, brain, and lung. As part of the inner dynein arm of motile cilia and flagella, DNAH6 hydrolyzes ATP to produce mechanical movement along microtubules, which is essential for processes including ciliary beating, mucociliary clearance, cell migration, and sperm flagellar function. DNAH6 mutations disrupt the assembly and stability of the axoneme, causing severe defects in ciliary and flagellar structure and motility. Pathogenic variants of DNAH6 are implicated in primary ciliary dyskinesia (a disorder of motile cilia), developmental defects such as heterotaxy, and various forms of male infertility, especially those categorized by sperm flagella and head anomalies. DNAH6 interacts genetically with other axonemal dynein arm proteins, e.g., DNAH1, DNAH5, and DNAI1, contributing to complex oligogenic disease inheritance. It is not currently considered a therapeutic or actionable drug target.

Other names

DNAHC6DNHL1HL2KIAA1697Dnahc6HL-2FLJ37357Axonemal beta dynein heavy chain 6Ciliary dynein heavy chain 6dynein heavy chain-like 1