Anti-FLCN Picoband® Antibody Fluoro488 Conjugated

Folliculin also known as FLCN, Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé 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.

May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.

1. Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K. A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am. J. Hum. Genet. 76: 522-527, 2005. 2. Ren, H.-Z., Zhu, C.-C., Yang, C., Chen, S.-L., Xie, J., Hou, Y.-Y., Xu, Z.-F., Wang, D.-J., Mu, D.-K., Ma, D.-H., Wang, Y., Ye, M.-H., Ye, Z.-R., Chen, B.-F., Wang, C.-G., Lin, J., Qiao, D., Yi, L. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clin. Genet. 74: 178-183, 2008. 3. Schmidt, L. S., Nickerson, M. L., Warren, M. B., Glenn, G. M., Toro, J. R., Merino, M. J., Turner, M. L., Choyke, P. L., Sharma, N., Peterson, J., Morrison, P., Maher, E. R., Walther, M. M., Zbar, B., Linehan, W. M. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am. J. Hum. Genet. 76: 1023-1033, 2005.