MKS1

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.