Reactivities: | Human |
Presku: | AAP61521 |
Size: | 100ug |
Weight: | 64kDa |
Gene: | The peptide is characterized by mass spectroscopy |
Format: | Lyophilized powder |
Target: | 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 names: | BHD; DKFZp547A118; FLCL; FLJ45004; FLJ99377; MGC17998; MGC23445 |