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中文名称：MKS1抗原（重组蛋白）
英文名称： MKS1 Antigen (Recombinant Protein)
别 名： MES; MKS; BBS13; POC12; JBTS28
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
|
Fusion protein corresponding to a region derived from 271-470 amino acids of human MKS1 |
|
Full name: |
Meckel syndrome, type 1 |
|
Synonyms: |
MES; MKS; BBS13; POC12; JBTS28 |
|
Swissprot: |
Q9NXB0 |
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Gene Accession: |
BC010061 |
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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: |
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. |
