Folliculin Antibody / FLCN

Folliculin also known as FLCN, Birt-Hogg-Dube syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dube syndrome and hereditary spontaneous pneumothorax. It is encoded by the Folliculin (FLCN) gene (alias BHD, FLCL) that acts as a tumor suppressor gene. It is mapped to 17p11.2. 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.