FLCN
Sign in to saveAlso known as FLCL, BHD, Folliculin, DENND8B
The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN) is also associated with Birt–Hogg–Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts (often associated with pneumothorax), and kidney tumors.
Gene data
FLCN- Name
- folliculin
- Type
- protein-coding
- Aliases
- BHD, DENND8B, FLCL
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].
via MyGene.info
Gene · Ensembl
folliculin
- Symbol
- FLCN
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:17,212,200-17,237,326
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 14583
- exact match
- identifiers.org/ncbigene/201163
- genomic end
- 17140502
- genomic start
- 17115526
- cytogenetic location
- 17p11.2
via Wikidata · CC0
~17 min read
Article
20 sectionsContents
- Gene
- Structure
- Location
- Clinical significance
- Discovery
- Genetics
- Function
- Interactions
- FLCN phosphorylation
- Functions of FLCN
- Regulation of the AKT-mTOR pathway
- mTORC1 activation on the lysosome
- Control of TFE3/TFEB transcriptional activation
- Regulation of PGC-1α and mitochondrial biogenesis
- Maintenance of cell-cell adhesions and regulation of RhoA signaling
- Ciliogenesis and cilia-dependent flow sensory mechanisms
- Other potential functions
- References
- Further reading
- External links
The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN) is also associated with Birt–Hogg–Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts (often associated with pneumothorax), and kidney tumors.
==Gene==