DNAH17

dynein axonemal heavy chain 17

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000187775
UniProt:
Q9UFH2
OMIM:
610063
Synonyms:
DNAHL1, DNEL2, FLJ40457

Ciliogenesis screen results (1 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal hair growth

Ciliopathy associations

  • Male Infertility

References: PMID:38992144

Subcellular localization

cilia

References: PMID:31178125, PMID:31658987

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Sperm-specific axonemal outer dynein arm heavy chain. Mutations cause isolated male infertility due to asthenozoospermia (31178125) and flagella instability (31658987)