CFAP251

cilia and flagella associated protein 251

Ensembl:
ENSG00000158023
UniProt:
Q8TBY9
OMIM:
618146
Synonyms:
CAM-IP4, MGC33630, WDR66

Cilia effects upon perturbation of CFAP251

Phenotypes

Human ciliopathy phenotype:
non-syndromic male infertility due to sperm motility disorder

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • 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 D H1, on the inner surface of the peripheral microtubule doublets of the axoneme (30122541). Tetrahyme ortholog necessary for efficient coordi ted ciliary beating. (30122541). Involved in central pair complex assembly/stability 30686508

Model organism evidence

Mus musculus (1 reference)

Mutations in the Cfap251 gene have been identified as causative for morphology and motility abnormalities in spermatozoa of infertile males, manifesting as multiple morphological abnormalities of the sperm flagella (MMAF).

PMIDs: 41943837