The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].
Mahuzier, Gaudé, Grampa, Anselme, Silbermann, Leroux-Berger, Delacour, Ezan, Montcouquiol, Saunier, Schneider-Maunoury, Vesque: "Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity." in: The Journal of cell biology, Vol. 198, Issue 5, pp. 927-40, (2012) (PubMed).
Aliases for MKS1 抗体
Meckel syndrome, type 1 (MKS1) 抗体 Meckel syndrome, type 1 (Mks1) 抗体 AK190930 抗体 B8d3 抗体 BBS13 抗体 MES 抗体 MKS 抗体 POC12 抗体