The target sequence has 95% sequence homology with canine, 92% sequence homology with rat and 91% sequence homology with bovine.
FLCN is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in FLCN are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of FLCN results in two transcript variants encoding different isoforms.
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Protein Aliases: BHD; BHD skin lesion fibrofolliculoma protein; Birt-Hogg-Dube syndrome protein; FLCL; Folliculin
Gene Aliases: AU014660; B430214A04Rik; BHD; FLCL; FLCN