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中文名称：GATM抗原（重组蛋白）
英文名称： GATM Antigen (Recombinant Protein)
别 名： AT; AGAT; CCDS3
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
|
Fusion protein corresponding to a region derived from 224-423 amino acids of human GATM |
|
Full name: |
glycine amidinotransferase |
|
Synonyms: |
AT; AGAT; CCDS3 |
|
Swissprot: |
P50440 |
|
Gene Accession: |
BC004141 |
|
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 mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. |
