FLCN, Official Symbol FLCNprovided by HGNC Official Full Name folliculinprovided by HGNC Primary source HGNC:HGNC:27310 See related Ensembl:ENSG00000154803 MIM:607273; AllianceGenome:HGNC:27310 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BHD; FLCL; DENND8B Summary 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] Expression Ubiquitous expression in endometrium (RPKM 9.4), ovary (RPKM 9.3) and 25 other tissues See more Orthologs mouse all