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Protein Page:
APRT (human)

Overview
APRT Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD); 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. Belongs to the purine/pyrimidine phosphoribosyltransferase family. Note: This description may include information from UniProtKB.
Protein type: EC 2.4.2.7; Nucleotide Metabolism - purine; Transferase
Chromosomal Location of Human Ortholog: 16q24
Cellular Component: cytoplasm; cytosol; nucleoplasm
Molecular Function: adenine phosphoribosyltransferase activity; AMP binding
Biological Process: purine salvage
Disease: Adenine Phosphoribosyltransferase Deficiency
Reference #:  P07741 (UniProtKB)
Alt. Names/Synonyms: Adenine phosphoribosyltransferase; AMP; AMP diphosphorylase; AMP pyrophosphorylase; APRT; APT; DKFZp686D13177; MGC125856; MGC125857; MGC129961; transphosphoribosidase
Gene Symbols: APRT
Molecular weight: 19,608 Da
Basal Isoelectric point: 5.78  Predict pI for various phosphorylation states
Select Structure to View Below

APRT

Protein Structure Not Found.
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