Primary Identifier | IPR039893 | Type | Family |
Short Name | CEP120-like |
description | CEP120 is a centrosomal protein required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner []. It has been shown to interact with SPICE1 and CPAP []. This entry also includes CEP120-like proteins from plants and fungi, which do not have centrosomes.Mutations of the CEP120 gene cause short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) []and Joubert syndrome 31 (JBTS31) []. |