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英文名称： POMGNT1 Antigen (Recombinant Protein)
别 名： protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-); MEB; RP76; GNTI.2; LGMD2O; GnT I.2; MGAT1.2; gnT-I.2
储 存：冷冻（-20℃
相关类别： 抗原
概述：
|
Fusion protein corresponding to a region derived from 461-660 amino acids of human POMGNT1 |
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Full name: |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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Synonyms: |
MEB; RP76; GNTI.2; LGMD2O; GnT I.2; MGAT1.2; gnT-I.2 |
|
Swissprot: |
Q8WZA1 |
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Gene Accession: |
BC001471 |
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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: |
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. |
