Involved in positive regulation of centriole elongation and positive regulation of establishment of protein localization. Located in centrosome. Implicated in Joubert syndrome 31 and short-rib thoracic dysplasia 13 with or without polydactyly.
RGD Description
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]