You can’t get away from the fact that the protein mutated in BHD syndrome, folliculin, is inextricably linked with the mTOR pathway. It also seems as though a whole host of other syndromes are too and that a few of these syndromes also have overlapping or similar phenotypes…coincidence?
Having had the opportunity to digest most of the research published on BHD I was surprised not to come across folliculin in any cell signalling pathways. Having previously worked in the lab I know it’s sometimes easy to (unintentionally) get carried away with focussing too much on your ‘pet’ gene and as the saying goes, no man is an island! I think that probably goes for his genes too, so we’ve come up with a cell signalling diagram to show how and where folliculin fits in with mTOR. You can find the diagram here and as usual all your feedback is welcome!