Aliases for FLCN Gene
External Ids for FLCN Gene
Previous GeneCards Identifiers 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, Primary Spontaneous and Birt-Hogg-Dube Syndrome. Among its related pathways are mTOR signaling pathway (KEGG) and Translational Control. An important paralog of this gene is ENSG00000264187.
UniProtKB/Swiss-Prot Summary for FLCN Gene
May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.