Predicted to enable enzyme binding activity and enzyme inhibitor activity. Predicted to contribute to GTPase activator activity. Predicted to be involved in several processes, including negative regulation of brown fat cell differentiation; negative regulation of metabolic process; and regulation of intracellular signal transduction. Predicted to act upstream of or within with a positive effect on negative regulation of cell population proliferation. Predicted to act upstream of or within several processes, including SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; TORC1 signaling; and protein destabilization. Predicted to be located in several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Predicted to be part of FNIP-folliculin RagC/D GAP. Predicted to be active in cytosol. Predicted to colocalize with cell-cell contact zone and midbody. Used to study renal cell carcinoma. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin); PARTICIPATES IN mTOR signaling pathway; renal cell carcinoma pathway; INTERACTS WITH 1-benzylpiperazine; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene.
[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...
[tris(2-butoxyethyl) phosphate co-treated with IMOL S-140 co-treated with tri-(2-chloroisopropyl)phosphate co-treated with tris(1,3-dichloro-2-propyl)phosphate co-treated with triphenyl more ...
[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...
[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...
[NOG protein co-treated with Thimerosal co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ...
[tris(2-butoxyethyl) phosphate co-treated with IMOL S-140 co-treated with tri-(2-chloroisopropyl)phosphate co-treated with tris(1,3-dichloro-2-propyl)phosphate co-treated with triphenyl more ...
[tris(2-butoxyethyl) phosphate co-treated with IMOL S-140 co-treated with tri-(2-chloroisopropyl)phosphate co-treated with tris(1,3-dichloro-2-propyl)phosphate co-treated with triphenyl more ...
[tris(2-butoxyethyl) phosphate co-treated with IMOL S-140 co-treated with tri-(2-chloroisopropyl)phosphate co-treated with tris(1,3-dichloro-2-propyl)phosphate co-treated with triphenyl more ...
[tris(2-butoxyethyl) phosphate co-treated with IMOL S-140 co-treated with tri-(2-chloroisopropyl)phosphate co-treated with tris(1,3-dichloro-2-propyl)phosphate co-treated with triphenyl more ...
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome.
in heterozygotes, a germline insertion of one nucleotide resulting in a nonsense mutation gives rise to renal adenocarcinomas by the age of 6 months; homozygosity is lethal at an early stage of embryogenesis
10 of 11 renal carcinomas showed a loss of heterozygosity at the Bhd locus and the one LOH-negative case displayed a spontaneous nonsense point mutation at the second Bhd locus