DISEASES

Disease-gene associations mined from literature

Literature associating C2CD3 and Joubert syndrome

C2CD3 [ENSP00000334379]

C2 calcium-dependent domain containing 3; Component of the centrioles that acts as a positive regulator of centriole elongation. Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation. Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3; C2 domain containing

Synonyms:  C2CD3,  C2CD3p,  hC2CD3,  LOC102724033,  F5H0U2 ...

Linkouts:  STRING  Pharos  UniProt