Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRTgene, found in humans on chromosome 16.[5] It is part of the Type I PRTase family and is involved in the nucleotide salvage pathway, which provides an alternative to nucleotide biosynthesis de novo in humans and most other animals.[6] In parasitic protozoa such as giardia, APRTase provides the sole mechanism by which AMP can be produced.[7] APRTase deficiency contributes to the formation of kidney stones (urolithiasis) and to potential kidney failure.[8]
The APRT gene is constituted by 5 exons (in blue). The start (ATG) and stop (TGA) codons are indicated (bold blue). CpG dinucleotides are emphasized in red. They are more abundant in the upstream region of the gene where they form a CpG island.
