免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 1-310 ofhuman ADSL (NP_000017.1)
纯化工艺
Affinity purification
储存
Store at -20℃. Avoid freeze / thaw cycles.Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
其他名称
ASL; AMPS; ASASE; ADSL
背景
The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzymeinvolved in purine metabolism, and catalyzes two non-sequential reactions in the de novopurine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamideribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion ofadenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene areassociated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotorretardation, epilepsy or autistic features. Alternatively spliced transcript variants have beenfound for this gene
