TMEM67 Back

transmembrane protein 67

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NCBI Description of TMEM67
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TMEM67 is highly significantly mutated in
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TMEM67 is significantly mutated in
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TMEM67 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for TMEM67