FLCN

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Folliculin gene (FLCN, BHD gene) is at 17p11.2.

Codes for folliculin, a 579-amino acid protein in 14 exons. Over 50 mutations of this cause the Birt-Hogg-Dube syndrome:

Some mutations or polymoprhisms are also associated with primary spontaneous pneumothorax, without to date reports of increased malignancy[1].

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.[2].

References