Recombinant protein encompassing a sequence within the center region of human MKS1. The exact sequence is proprietary.
Alternative Synonym:
MES, MKS, BBS13, POC12, JBTS28
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.
