Meckel Syndrome Protein Type 1 (MKS1)

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.The gene contains an open reading frame (bp 76-1755) coding for a 559-amino acid polypeptide containing a conserved B9 domain. Comparison of sequence across human, mouse, zebrafish, fruit fly, and C. elegans showed high conservation. Human and mouse coding regions are 86 to 88% similar at the nucleotide level and 89% at the amino acid level. In situ hybridization analyses showed a relatively broad tissue expression of Mks1 in mouse embryo at embryonic day 15.5. The expression was especially prominent in tissues showing malformations characteristic of Meckel syndrome: brain, liver, kidney, and digits of the upper limbs. Highest expression was observed in bronchiolar epithelium.