Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.
Function
The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.
Clinical significance
Mutations in the MKS1 are associated with Meckel syndrome or Bardet–Biedl syndrome.
References
Further reading
External links GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome