DNAH6

dynein axonemal heavy chain 6

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

Phenotypes

Mouse ciliopathy phenotype:
abnormal uterus morphology, abnormal kidney morphology, hydrometra

Ciliopathy associations

  • Male Infertility

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • 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.

Model organism evidence

Mus musculus (1 reference)

Brn-3b is highly expressed in mature spermatids and infertility in constitutive male Brn-3b knockout (KO) mice is characterised by structural and functional testicular changes such as reduced sperm counts, impaired motility and ultrastructural defects including disrupted acrosomes and defects in

PMIDs: 41282076