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Tectonic-like complex member MKS1

Definition:

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.

References:

[1]. Gisela G Slaats, et al. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 2016 Jan;53(1):62-72. [Content Brief]

[2]. Helen R Dawe, et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007 Jan 15;16(2):173-86. [Content Brief]

[3]. Rachaneekorn Tammachote, et al. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet. 2009 Sep 1;18(17):3311-23. [Content Brief]

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