DNAH9

dynein axonemal heavy chain 9

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000007174
UniProt:: Q9NYC9
OMIM:: 603330
Synonyms:: DNAH17L, DNAHC9, DNAL1, DYH9, HL-20, HL20, KIAA0357

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:30471718, PMID:15937072

Subcellular localization

cilia

References: PMID:42010243, PMID:30471717, PMID:30471718

Functional category

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

Function

Component of ciliary outer dynein arms and is required in cilia motility and ODA stability. In individuals with pathogenic variants in DNAH11, DNAH9 can reside in the place of DNAH11. Mutations confer a loss of ODAs in the distal portion of the ciliary axoneme and affects the ciliary beat pattern (30471717). Essential in distal axonemal assembly and docking of ODAs type 2, which occurs via direct interaction of DNAH9 with the docking complex protein CCDC114 (30471718)

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