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 Lesch-Nyhan Syndrome. Among its related pathways are Metabolism of nucleotides and Innate Immune System. Gene Ontology (GO) annotations related to this gene include transferase activity and adenine binding.
UniProtKB/Swiss-Prot Summary for APRT Gene
Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.