Immunogen sequence: EVPSFLVERM ANVRRRRQDR RGMEGGILKS RIVTWEPSEE FVRNNHVINT PLQTMHIMAD LGPYKKLGYK KYEHVLCTLK VDSNGVITVK PDFTGLKGPY RI
Highest antigen sequence identity to the following orthologs: Mouse - 86%, 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.
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Protein Aliases: Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; POC12 centriolar protein homolog; Tectonic-like complex member MKS1
Gene Aliases: BBS13; MES; MKS; MKS1; POC12
Molecular Function: structural protein