MKS1

Description

The MKS1 (MKS transition zone complex subunit 1) is a protein-coding gene located on chromosome 17.

Meckel syndrome, type 1 (MKS1) is a protein encoded by the MKS1 gene in humans. It is part of the flagellar apparatus basal body proteome and, along with meckelin, is essential for cilia formation. Mutations in the MKS1 gene are associated with Meckel syndrome or Bardet–Biedl syndrome.

MKS1, as part of the tectonic-like complex, is positioned at the transition zone of primary cilia. This complex acts as a barrier, preventing the leakage of transmembrane proteins between the cilia and the cell membrane. MKS1 plays a crucial role in the movement of centrosomes to the apical cell surface during the early stages of cilia development. It is essential for maintaining the structure and functionality of cilia, including regulating their length and ensuring the correct number of cilia by modulating centrosome duplication. Additionally, MKS1 is required for the branching morphology of cells.

MKS1 is also known as BBS13, JBTS28, MES, MKS, POC12.

Associated Diseases

• Joubert syndrome with ocular defect
• Bardet-Biedl syndrome 13
• Meckel syndrome 1
• Bardet-Biedl syndrome
• Joubert syndrome
• Meckel syndrome
• Joubert syndrome 28