CFAP65

cilia and flagella associated protein 65

Ensembl:: ENSG00000181378
UniProt:: Q6ZU64
OMIM:: 614270
Synonyms:: CCDC108, DKFZP434O0527, MGC35338

Cilia effects upon perturbation of CFAP65

Loss-of-function effect:: No effect

Ciliogenesis screen results (1 screen)

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

Ciliopathy associations

Male Infertility

Subcellular localization

flagella

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
T cell biology
Reproduction & sperm
Cell migration & adhesion

Function

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and multiple malformations of the sperm flagella (31413122, 31501240, 31571197)

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