基因名:
FLCN
产品别名:
BHD; DENND8B; FLCL; FLCN; folliculin; folliculin; folliculin; BHD skin lesion fibrofolliculoma protein; birt-Hogg-Dube syndrome protein; 卵巢滤泡激素; 卵巢滤泡激素(FLCN);
背景信息:
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 three transcript variants encoding different isoforms.