Description
Product Characteristics: For the quantitative determination of human folliculin (FLCN) concentrations in serum, plasma, tissue homogenates, cell lysates.
Target Information: 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]