Gene Symbol | FLCN |
Entrez Gene ID | 201163 |
Full Name | folliculin |
Synonyms | BHD,FLCL |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary spontaneous, 173600 (3); Renal carcinoma, chromophobe, somatic, 144700 (3); Colorectal cancer, somatic, 114500 (3) |