MKS transition zone complex subunit 1 (MKS1)

MKS transition zone complex subunit 1 (MKS1) is a protein localized to the basal body and transition zone of the primary cilium in eukaryotic cells[1][2][7]. MKS1 is essential for the biogenesis and structural maintenance of the primary cilium, a microtubule-based organelle involved in signaling and development[1][3]. MKS1 is a core component of the Meckel-Gruber syndrome (MKS) module, a multi-protein complex at the ciliary transition zone that functions as a gating structure, regulating protein and lipid movement into the cilium and facilitating the docking of the basal body to the plasma membrane[1][5]. Mutations in the MKS1 gene cause Meckel syndrome (a lethal congenital ciliopathy with CNS, renal, and hepatic malformations) and Bardet-Biedl syndrome (a multisystem disorder), demonstrating MKS1’s key role in mammalian development and signaling[1][2][3][4][5][7]. MKS1 also interacts functionally with the BBSome and intraflagellar transport (IFT) complexes, coordinating trafficking of signaling molecules such as transmembrane receptors to the cilium, and supporting Hedgehog pathway signaling[4][5]. Complete disruption of MKS1 leads to loss of cilia formation and severe developmental abnormalities[1][2][3][5]. Currently, no approved therapeutic drugs target MKS1 directly, but its gene and protein functions are exploited as biomarkers for diagnosing and understanding ciliopathies[1][7].

Other names

Meckel syndrome type 1 proteinPOC12 centriolar protein homologBBS13JBTS28FLJ20345Meckel syndrome type 1tectonic-like complex member MKS1POC12