Folliculin (FLCN) ELISA Kit for Human

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. [provided by RefSeq, Jul 2008]

FLCN: a protein that is expressed in most tissues and that has no significant homology to other proteins. Involved in nutrient sensing through the AMPK and mTOR signaling pathways. Regulates lysosome function by promoting the mTORC1-dependent sequestration of transcription factor EB (TFEB). Required for the recruitment of mTORC1 to lysosomes by Rag GTPases. Amino acid depletion leads to its recruitment to the surface of lysosomes where it directly binds RagA, an interaction that is promoted by FNIP1. May be a tumor suppressor. Loss of function mutations cause Birt-Hogg-Dube syndrome (BHD), a disease characterized by fibrofolliculomas (hair follicle tumors), and predispositions for renal carcinoma, pneumothorax, and pulmonary cysts. These symptoms are similar to those that occur in TSC or tuberous sclerosis complex, suggesting the involvement in the same pathways as TSC1. Belongs to the folliculin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Tumor suppressor

Chromosomal Location of Human Ortholog: 17p11.2

Cellular Component: cytoplasm; plasma membrane; midbody; nucleus

Molecular Function: protein binding; protein complex binding

Biological Process: intercellular junction assembly; negative regulation of TOR signaling pathway; regulation of protein amino acid phosphorylation; negative regulation of protein kinase B signaling cascade; TOR signaling pathway; positive regulation of cell adhesion; positive regulation of apoptosis; in utero embryonic development; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of histone acetylation; negative regulation of transcription from RNA polymerase II promoter; regulation of cytokinesis; regulation of TOR signaling pathway; negative regulation of Rho protein signal transduction; hemopoiesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein amino acid phosphorylation; negative regulation of cell growth; negative regulation of cell migration; positive regulation of TOR signaling pathway

Disease: Birt-hogg-dube Syndrome; Pneumothorax, Primary Spontaneous; Colorectal Cancer; Renal Cell Carcinoma, Nonpapillary