免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 1-310 of
human 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 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
