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中文名称： FLCN抗原（重组蛋白）
英文名称： FLCN Antigen (Recombinant Protein)
别 名： BHD; FLCL
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
|
Fusion protein corresponding to C terminal 250 amino acids of human FLCN |
|
Full name: |
folliculin |
|
Synonyms: |
BHD; FLCL |
|
Swissprot: |
Q8NFG4 |
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Gene Accession: |
NP_659434 |
|
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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. |
