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中文名称：ADSL 抗原（重组蛋白）
英文名称： ADSL Antigen (Recombinant Protein)
别 名： adenylosuccinate lyase; ASL; AMPS; ASASE
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
|
Fusion protein corresponding to a region derived from 235-484 amino acids of human ADSL |
|
Full name: |
adenylosuccinate lyase |
|
Synonyms: |
ASL; AMPS; ASASE |
|
Swissprot: |
P30566 |
|
Gene Accession: |
BC000253 |
|
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 belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. |
