Description
Product Characteristics:
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 three transcript variants encoding different isoforms.
Subcellular location: Cytoplasm, Nucleus
Synonyms: BHD, BHD skin lesion fibrofolliculoma protein, Birt Hogg Dube syndrome protein, FLCL, Folliculin, FLCN_HUMAN.
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]