DISEASES

Disease-gene associations mined from literature

Literature associating FUZ and neural tube defect

FUZ [ENSP00000313309]

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 (By similarity).

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

Linkouts:  STRING  Pharos  UniProt  OMIM