CFAP300

cilia and flagella associated protein 300

Ensembl:: ENSG00000137691
UniProt:: Q9BRQ4
OMIM:: 618058
Synonyms:: C11ORF70, DNAAF17, FBB5, MGC13040

Cilia effects upon perturbation of CFAP300

Cilia number / % ciliated:: Incrased cilia number

Phenotypes

Mouse phenotype:: preweaning lethality, complete penetrance, increased bone mineral content, abnormal bone structure
Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Male Infertility
Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Protein processing & maturation
Cell migration & adhesion

Function

(c11orf70) Involved in the cytoplasmic assembly, maturation, intraflagellar transport (IFT)-dependant assembly of axonemal dyneins required for cilia motility in multiciliated cells. Plays a role within protein folding and trafficking pathways required for the cytoplasmic preassembly of dynein arm motors and subsequent import into the motile ciliary axoneme (29727692, 29727693)

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