中文名稱: FLCN抗原(重組蛋白)
英文名稱: FLCN Antigen (Recombinant Protein)
別 名: BHD; FLCL
儲 存: 冷凍(-20℃)
相關類別: 抗原
概 述:
Fusion protein corresponding to C terminal 250 amino acids of human FLCN |
Full name: |
folliculin |
Synonyms: |
BHD; FLCL |
Swissprot: |
Q8NFG4 |
Gene Accession: |
NP_659434 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
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. |