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ADSL
Anti-ADSL Recombinant Antibody Products
- AbPlus™ Anti-ADSL Magnetic Beads (VS-0724-YC125) (VS-0724-YC125)
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- Target: ADSL
- Target Species: Human
- Application: IP, Protein Purification
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More Infomation
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For Research Use Only. Not For Clinical Use.
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. [provided by RefSeq, Dec 2015]
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site.
Molecular function
Lyase
More Types Infomation