Nutrient Signaling and Lysosome Positioning Crosstalk Through a Multifunctional Protein, Folliculin.

ABSTRACT: FLCN was identified as the gene responsible for Birt-Hogg-Dubé (BHD) syndrome, a hereditary syndrome associated with the appearance of familiar renal oncocytomas. Most mutations affecting FLCN result in the truncation of the protein, and therefore loss of its associated functions, as typical for a tumor suppressor. FLCN encodes the protein folliculin (FLCN), which is involved in numerous biological processes; mutations affecting this protein thus lead to different phenotypes depending on the cellular context. FLCN forms complexes with two large interacting proteins, FNIP1 and FNIP2. Structural studies have shown that both FLCN and FNIPs contain longin and differentially expressed in normal versus neoplastic cells (DENN) domains, typically involved

SUBMITTER: de Martin Garrido N 

PROVIDER: S-EPMC7063858 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature