图文详情
Application:IF
Reactivity: (predicted: Human,Mouse,Rat,Sheep,Cow,Chicken,Dog,Horse)
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.