Aliases for FLCN Gene
External Ids for FLCN Gene
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for FLCN Gene
FLCN (Folliculin) is a Protein Coding gene. Diseases associated with FLCN include pneumothorax and birt-hogg-dube syndrome. Among its related pathways are Translational Control and Development HGF signaling pathway. GO annotations related to this gene include protein complex binding. An important paralog of this gene is ENSG00000264187.
UniProtKB/Swiss-Prot for FLCN Gene
May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair follicle (fibrofolliculomas). May be a tumor suppressor. May be involved in colorectal tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.