DISEASES

Disease-gene associations mined from literature

Literature associating MKS1 and Joubert syndrome 6

MKS1 [ENSP00000376827]

Meckel syndrome type 1 protein; 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; B9 domain containing

Synonyms:  MKS1,  MKS1p,  hMKS1,  F5H5Y8,  H0Y2S2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM