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Cat No | BSPA-0682 |
Conjugate | |
Type | Polyclonal Antibody |
Source | Rabbit |
Size | 1 mg |
Application | ELISA; WB |
Format | Liquid |
Concentration | Please refer to the vial lable for the specific concentration. |
Buffer | Supplied in PBS. |
Species | Human |
Storage | Store at -20 degree. Avoid repeted freeze/thaw cycl. |
Synonyms | ADSL;ASL;AMPS;ASASE |
Purification | |
Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
MolecularWeight | |
Description | |
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 to aminoimidazole carboxamide ribotide and the conversion of adenylosuccinate to adenosine monophosphate . Mutations in this gene are associated with adenylosuccinase deficiency , a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. |