该基因位于17号染色体的Smith-Magenis综合征区域。该基因突变与Birt-Hogg-Dube综合征有关,后者以纤维滤泡瘤、肾肿瘤、肺囊肿和气胸为特征。该基因的选择性剪接导致编码不同亚型的两个转录变体。
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.

基因名:FLCN
别名:BHD,FLCL
基因ID:201163
Chromosome:
(GRCh37)
17 Start: 17115526 End: 17140502 Strand: -1
信号通路: 侵袭和转移 
靶向药: 依维莫司  Sirolimus [USAN:BAN:INN] 
化疗药:
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