ADSL Human
Description
ADSL is fused to a 36 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
ASL is a homotetrameric enzyme, meaning it consists of four identical subunits . It catalyzes two key reactions in the de novo purine biosynthetic pathway:
- Conversion of Succinylaminoimidazole Carboxamide Ribotide (SAICAR) to Aminoimidazole Carboxamide Ribotide (AICAR): This reaction is part of the purine de novo synthesis pathway .
- Formation of AMP from Adenylosuccinate (S-AMP): This reaction occurs in the purine nucleotide cycle .
Both reactions involve the cleavage of fumarate from the substrate, utilizing an E1cb elimination reaction mechanism .
ADSL deficiency is a rare genetic disorder characterized by psychomotor retardation and epilepsy . This condition results from mutations in the ADSL gene, leading to reduced enzyme activity. The severity of the clinical phenotype correlates with the level of residual enzyme activity . Accumulation of the enzyme substrates, succinylaminoimidazole-carboxamide riboside (SAICAr) and succinyladenosine (S-Ado), in the cerebrospinal fluid (CSF) of affected individuals is a hallmark of this disorder .
Human recombinant ASL is produced using recombinant DNA technology, which involves cloning the ADSL gene into an expression vector and introducing it into a host organism, typically Escherichia coli . The recombinant enzyme is then purified for various applications, including research and therapeutic purposes.
