DNAH6

dynein axonemal heavy chain 6

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000115423
UniProt:
Q9C0G6
OMIM:
603336
Synonyms:
DNAHC6, DNHL1, FLJ37357, HL-2

Cilia effects upon perturbation of DNAH6

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Male Infertility

References: PMID:37594300

Subcellular localization

basal body, cilia, ciliary tip

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:26918822

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • Cell migration & adhesion
  • Cilia length regulation

Function

Putative inner dynein arm component. Required for ciliogenesis and motile cilia function mediating airway clearance and left/right patterning. Mutations can cause heterotaxy and ciliary dysfunction similar to primary ciliary dyskinesia by disruption of cilia ultrastructure (26918822). Rather a marked reduction in KV cilia length and decrease in the number of motile KV cilia.