C2 domain-containing protein 3

Definition:

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.

References:

[1]. Christel Thauvin-Robinet, et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014 Aug;46(8):905-11. [Content Brief]

[2]. Fernando R Balestra, et al. Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells. Dev Cell. 2013 Jun 24;25(6):555-71. [Content Brief]

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