BHE13703820
Meckel syndrome type 1 protein encoded by MKS1 localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in MKS1 result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for MKS1.
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