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)