CFAP119

cilia and flagella associated protein 119

Ensembl:: ENSG00000196118
UniProt:: A1A4V9
OMIM:: 618318
Synonyms:: C16ORF93, CCDC189, MGC104706

Cilia effects upon perturbation of CFAP119

Phenotypes

Mouse phenotype:: decreased vertical activity, decreased locomotor activity, increased circulating hdl cholesterol level, increased circulating cholesterol level
Mouse ciliopathy phenotype:: male infertility

Subcellular localization

flagella

Functional category

Ciliary assembly/disassembly
Reproduction & sperm

Function

CFAP119 has localized in flagella.

Model organism evidence

Mus musculus (1 reference)

CFAP119 has been implicated in sperm flagellar formation and is essential for fertility in mice; however, its role in human fertility has not been established.

PMIDs: 40759592

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