Aliases for MKS1 Gene
External Ids for MKS1 Gene
Previous HGNC Symbols for MKS1 Gene
Previous GeneCards Identifiers for MKS1 Gene
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
GeneCards Summary for MKS1 Gene
MKS1 (MKS Transition Zone Complex Subunit 1) is a Protein Coding gene. Diseases associated with MKS1 include Meckel Syndrome, Type 1 and Bardet-Biedl Syndrome 13. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. An important paralog of this gene is B9D2.
UniProtKB/Swiss-Prot Summary for MKS1 Gene
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.