CFAP47

cilia and flagella associated protein 47

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000165164
UniProt:: Q6ZTR5
OMIM:: 301057
Synonyms:: CHDC2, CXORF22, CXORF30, CXORF59, FLJ36601, MGC34831, RP13-11B7.1

Cilia effects upon perturbation of CFAP47

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Phenotypes

Mouse phenotype:: abnormal eyelid morphology, decreased spleen weight, decreased lean body mass, increased total body fat amount

Ciliopathy associations

Male Infertility
Polycystic Kidney Disease
Primary Ciliary Dyskinesia

References: PMID:37723893, PMID:38633811, PMID:33472045

Subcellular localization

flagella

Functional category

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

Function

Hemizygous mutations in CFAP47 can induce X-linked multiple morphological abnormalities of the flagella and asthenoteratozoospermia in humans and mice. Expressed in spermatozoa, but exact localisation not known (33472045)

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