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Reagents, Molecular Assay, Gene Anomaly, Mutation, AGXT

Definition : Molecular assay reagents intended to identify mutations in the alanine-glyoxylate aminotransferase (AGXT) gene, located at chromosome 2q36-q37, which encodes for a liver enzyme called alanine-glyoxylate aminotransferase found inside the peroxisomes. Mutations at this locus have been identified in most patients with primary hyperoxaluria type 1 (PH1), an early-onset disease with recurrent nephrolithiasis, nephrocalcinosis, and renal calculi.

Entry Terms : "Niphrocalcinosis Gene Mutation Detection Reagents" , "Nephrolithiasis Gene Mutation Detection Reagents" , "Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency Gene Mutation Detection Reagents" , "Alanine-Glyoxylate Aminotransferase (ALG) Deficiency Gene Mutation Detection Reagents" , "Primary Hyperoxaluria Type 1 (PH1) Gene Mutation Detection Reagents" , "Hyperoxaluria Gene Mutation Detection Reagents"

UMDC code : 24282

   

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