ADSL Rabbit Polyclonal Antibody
Other products for "ADSL"
Specifications
Product Data | |
Applications | ELISA, WB |
Recommended Dilution | WB: 200-1000 WB positive control: A549 and HEPG2 cell lysates |
Reactivities | Human, Mouse |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Fusion protein of human ADSL |
Formulation | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Concentration | lot specific |
Purification | Antigen affinity purification |
Conjugation | Unconjugated |
Storage | Store at -20°C. |
Stability | 1 year |
Predicted Protein Size | 55 kDa |
Database Link | |
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. |
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