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Belonging to the folliculin family, this gene is involved in the regulation of protein phosphorylation and protein binding. Located on chromosome 17 within the Smith-Magenis region, folliculin is a possible tumor suppressor gene associated with hereditary renal carcinoma. Mutations in this gene are associated with Birt-Hogg Dube syndrome. Folliculin may play a role in the pathogenesis of kidney cancer. Additionally, this gene may be involved in colorectal tomorigenesis and is also known to be involved in energy and nutrient sensing through the AMPK and mTOR signaling pathways. Common diseases associated with this gene include renal-cell carcinoma, colorectal cancer, renal cancer, Birt-Hogg-Dube syndrome and primary spontaneous pneumothorax.
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