Disease-gene associations mined from literature

Literature associating FUZ and spina bifida occulta

FUZ [ENSP00000313309]

Fuzzy planar cell polarity protein; 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 (By similarity).

Synonyms:  FUZ,  A0A024QZF7,  E9PK12,  E9PKJ4,  E9PLA3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM