Folliculin gene (FLCN, BHD gene) is at 17p11.2.
Some mutations or polymoprhisms are also associated with primary spontaneous pneumothorax, without to date reports of increased malignancy.
Folliculin and an interacting partner, folliculin-interacting protein, FNIP1, may be involved in the AMPK and mTOR signalling pathways. It is a highly conserved gene suggesting an important function in the tissues where its mRNA is expressed: stromal cells, the distal nephron, type I pneumocytes, and skin..
- ↑ Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clinical genetics. 2008 May 25.(Epub ahead of print) (Link to article – subscription may be required.)
- ↑ Toro JR, Wei MH, Glenn G, Weinreich M, Toure O, Vocke C, Turner ML, Merino M, Pinto P, Steinberg S, Schmidt L, Linehan WM. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube Syndrome: A new series of 50 families and a review of published reports. Journal of medical genetics. 2008 Jan 30.(Epub ahead of print) (Link to article – subscription may be required.)