FUZZY

fuzzy planar cell polarity protein

Ensembl:: ENSG00000141068
OMIM:: 617562.0
Synonyms:: FZY, CPLANE4, C2orf40

Cilia effects upon perturbation of FUZZY

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

Ciliopathy associations

Joubert Syndrome
Short-Rib Thoracic Dysplasia

Subcellular localization

cilia, basal body

Functional category

Ciliary assembly/disassembly

Function

FUZZY (CPLANE4) is a member of the CPLANE (ciliogenesis and planar polarity effector) complex required for ciliogenesis and planar cell polarity. Essential for the assembly of the intraflagellar transport machinery at the ciliary base. Associated with Joubert syndrome and Short-Rib Thoracic Dysplasia.(25336913)

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