CFAP251
cilia and flagella associated protein 251
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000158023
- UniProt:
- Q8TBY9
- OMIM:
- 618146
- Synonyms:
- CAM-IP4, MGC33630, WDR66
Phenotypes
- Human ciliopathy phenotype:
- non-syndromic male infertility due to sperm motility disorder
Ciliopathy associations
- Male Infertility
References: PMID:30122541, PMID:30310178
Subcellular localization
cilia
References: PMID:25694453, PMID:30122541, PMID:41410385, PMID:42010243, PMID:30686508
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Reproduction & sperm
- Cell migration & adhesion
Function
Encodes CFAP251, suggested to play structural role during biogenesis of the spermatozoon flagellum in vertebrates.. Biallelic loss-of- function mutations in CFAP251 cause spermatogenic failure type 33 in human males (OMIM: 618146) (30122541). Normally located along the sperm flagellum but absent in men carrying WDR66 mutations (30122541). Component of the calmodulin- and radial-spoke- associated complex, located adjacent to DNAH1, on the inner surface of the peripheral microtubule doublets of the axoneme (30122541). Tetrahyme ortholog necessary for efficient coordinated ciliary beating. (30122541). Involved in central pair complex assembly/stability 30686508