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MKS1
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]
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Respiratory ciliated cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Part of the tectonic-like complex (also named B9 complex) (PubMed:26595381). Interacts with TMEM107 (PubMed:26595381). Interacts with TCTN3, AHI1, TCTN1, TCTN2, CC2D2A (By similarity). Interacts with FLNA (PubMed:22121117). Interacts with TMEM67 (PubMed:17185389). Interacts with B9D1 and B9D2 (By similarity).
More Types Infomation
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- Application: ELISA, WB
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For Research Use Only. Not For Clinical Use.