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中文名称：TMEM67 抗原（重组蛋白）
英文名称： TMEM67 Antigen (Recombinant Protein)
别 名： transmembrane protein 67; MKS3; JBTS6; NPHP11; TNEM67; MECKELIN
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
|
Fusion protein corresponding to a region derived from 41-310 amino acids of human TMEM67 |
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Full name: |
transmembrane protein 67 |
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Synonyms: |
MKS3; JBTS6; NPHP11; TNEM67; MECKELIN |
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Swissprot: |
Q5HYA8 |
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Gene Accession: |
BC032835 |
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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 primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). |
