中文名稱:ADSL 抗原(重組蛋白)
英文名稱: ADSL Antigen (Recombinant Protein)
別 名: adenylosuccinate lyase; ASL; AMPS; ASASE
儲 存: 冷凍(-20℃)
相關類別: 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 |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
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. |