Product overview
Description Anti-ADSL rabbit polyclonal antibody
Applications ELISA, WB
Immunogen Fusion protein of human ADSL
Reactivity Human, Mouse
Content 0.54 mg/ml
Host species Rabbit
Ig class Immunogen-specific rabbit IgG
Purification Antigen affinity purification
Target information
Symbol ADSL
Full name adenylosuccinate lyase
Synonyms ASL; AMPS; ASASE
Swissprot P30566
Target 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 (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.