| Description : |
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. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
54.9 kDa |
| AA Sequence : |
MAAGGDHGSPDSYRSPLASRYASPE MCFVFSDRYKFRTWRQLWLWLAEAE QTLGLPITDEQIQEMKSNLENIDFK MAAEEEKRLRHDVMAHVHTFGHCCP KAAGIIHLGATSCYVGDNTDLIILR NALDLLLPKLARVISRLADFAKERA SLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKG TTGTQASFLQLFEGDDHKVEQLDKM VTEKAGFKRAFIITGQTYTRKVDIE VLSVLASLGASVHKICTDIRLLANL KEMEEPFEKQQIGSSAMPYKRNPMR SERCCSLARHLMTLVMDPLQTASVQ WFERTLDDSANRRICLAEAFLTADT ILNTLQNISEGLVVYPKVIERRIRQ ELPFMATENIIMAMVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIE RIQVDAYFSPIHSQLDHLLDPSSFT GRASQQVQRFLEEEVYPLLKPYESV MKVKAELCLTRTRPLEQKLISEEDL AANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
