MKS1 Back

Meckel syndrome, type 1

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NCBI Description of MKS1

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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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


MKS1 is highly significantly mutated in
MKS1 is significantly mutated in
MKS1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for MKS1