The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 19 kDa (predicted molecular weight: 20 kDa).
FunctionCatalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
PathwayPurine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.
Involvement in diseaseDefects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
Sequence similaritiesBelongs to the purine/pyrimidine phosphoribosyltransferase family.
Naesens L et al. Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir). Mol Pharmacol84:615-29 (2013).
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Kim JS et al. Chloride intracellular channel 1 identified using proteomic analysis plays an important role in the radiosensitivity of HEp-2 cells via reactive oxygen species production. Proteomics10:2589-2604 (2010).
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