Aliases for APRT Gene
External Ids for APRT Gene
Previous GeneCards Identifiers for APRT Gene
Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for APRT Gene
APRT (Adenine Phosphoribosyltransferase) is a Protein Coding gene. Diseases associated with APRT include Adenine Phosphoribosyltransferase Deficiency and Dihydroxyadeninuria. Among its related pathways are Purine metabolism and Pyrimidine metabolism (KEGG). GO annotations related to this gene include transferase activity and adenine binding.
UniProtKB/Swiss-Prot for APRT Gene
Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.