Immunogen sequence: TCTTKSLAMD KVAHFSYPFT FEAFFLHEDE SSDALPEWPV LYCEVLSLDF WQRYRVEGYG AVVLPATPGS HTLTVSTWRP VELGTVA
Highest antigen sequence identity to the following orthologs: Mouse - 87%, Rat - 85%.
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.
Protein Aliases: Meckel syndrome type 1 protein; POC12 centriolar protein homolog
Gene Aliases: BBS13; MES; MKS; MKS1; POC12
UniProt ID: (Human) Q9NXB0
Entrez Gene ID: (Human) 54903
Molecular Function: extracellular matrix protein