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FLCN


Official Full Name
folliculin
Organism
Homo sapiens
Gene ID
201163
Background
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]
Synonyms
BHD; FLCL; DENND8B

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