FUZ

Chr 19q13.33

fuzzy planar cell polarity protein

Aliases:: FLJ22688, Fy, CPLANE3
MANE:: ENST00000313777.9

OMIM: 610622 ↗NCBI: 80199 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FUZ · Q9BT04

v62025-08-01

Predicted Aligned Error matrix for FUZ — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.4/ 100

Confident

418 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)31%
Low(50–70)4%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Currarino triad
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial Neural Tube Defects
Rare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

ciliopathy
0.38
caudal regression sequence
0.37
short-rib thoracic dysplasia 6 with or without polydactyly
0.35
neural tube defect
0.34
Alzheimer disease
0.34
multiple sclerosis
0.34
Parkinson disease
0.34
lysosomal storage disease
0.34
neurodegenerative disease
0.34
amelogenesis imperfecta
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein fuzzy homolog

Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate (By similarity)