Description of target: This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. ;Species reactivity: Human;Application: ;Assay info: Assay Methodology: Quantitative Sandwich ELISA;Sensitivity: 1.5U/L
888EUR
888EUR
În stoc
Număr Catalog 247-OKEH01060CategorieAfaceri și industrie > Știință și laboratorFurnizorAviva Systems BiologyGentaurDimensiune96 WellsTipsingle