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'{{PBB|geneid=353}} '''Adenine phosphoribosyltransferase''' is an [[enzyme]] that in humans is encoded by the ''APRT'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: APRT adenine phosphoribosyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=353| accessdate = }}</ref> == Function == APRTase is an [[enzyme]] involved in the [[purine]] [[nucleotide salvage]] pathway. It functions as a catalyst in the reaction between [[adenine]] and [[phosphoribosyl pyrophosphate]] (PRPP) to form [[Adenosine monophosphate|AMP]]. APRT is functionally related to [[hypoxanthine-guanine phosphoribosyltransferase]] (HPRT). ==Pathology== Deficiency of APRT in [[human]] beings may lead to [[kidney stones]] formed of [[adenine]] and [[salts]]. [[2,8 dihydroxy-adenine urolithiasis|2,8-Dihydroxy-adenine urolithiasis]] is also known as "adenine phosphoribosyltransferase deficiency". Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic disorder that often causes kidney stones, and in some patients kidney failure. More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury. Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color. == References == {{reflist}} ==Further reading== {{refbegin | 2}} *{{cite journal | author=Tischfield JA, Engle SJ, Gupta PK, ''et al.'' |title=Germline and somatic mutation at the APRT locus of mice and man. |journal=Adv. Exp. Med. Biol. |volume=370 |issue= |pages= 661–4 |year= 1995 |pmid= 7660991 |doi= }} *{{cite journal | author=Takeuchi H, Kaneko Y, Fujita J, Yoshida O |title=A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. |journal=J. Urol. |volume=149 |issue= 4 |pages= 824–6 |year= 1993 |pmid= 8455250 |doi= }} *{{cite journal | author=Ludwig H, Kuzmits R, Pietschmann H, Müller MM |title=Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity. |journal=Blut |volume=39 |issue= 5 |pages= 309–15 |year= 1980 |pmid= 116697 |doi=10.1007/BF01014193 }} *{{cite journal | author=Johnson LA, Gordon RB, Emmerson BT |title=Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population. |journal=Biochem. Genet. |volume=15 |issue= 3–4 |pages= 265–72 |year= 1977 |pmid= 869896 |doi=10.1007/BF00484458 }} *{{cite journal | author=Kamatani N, Hakoda M, Otsuka S, ''et al.'' |title=Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients |journal=J. Clin. Invest. |volume=90 |issue= 1 |pages= 130–5 |year= 1992 |pmid= 1353080 |doi=10.1172/JCI115825 | pmc=443071 }} *{{cite journal | author=Chen J, Sahota A, Laxdal T, ''et al.'' |title=Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient |journal=Am. J. Hum. Genet. |volume=49 |issue= 6 |pages= 1306–11 |year= 1992 |pmid= 1746557 |doi= | pmc=1686459 }} *{{cite journal | author=Mimori A, Hidaka Y, Wu VC, ''et al.'' |title=A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects |journal=Am. J. Hum. Genet. |volume=48 |issue= 1 |pages= 103–7 |year= 1991 |pmid= 1985452 |doi= | pmc=1682758 }} *{{cite journal | author=Chen J, Sahota A, Stambrook PJ, Tischfield JA |title=Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase |journal=Mutat. Res. |volume=249 |issue= 1 |pages= 169–76 |year= 1991 |pmid= 2067530 |doi= 10.1016/0027-5107(91)90143-C}} *{{cite journal | author=Gathof BS, Sahota A, Gresser U, ''et al.'' |title=Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family |journal=Klin. Wochenschr. |volume=69 |issue= 24 |pages= 1152–5 |year= 1992 |pmid= 2135300 |doi=10.1007/BF01815434 }} *{{cite journal | author=Kamatani N, Kuroshima S, Hakoda M, ''et al.'' |title=Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation |journal=Hum. Genet. |volume=85 |issue= 6 |pages= 600–4 |year= 1990 |pmid= 2227951 |doi=10.1007/BF00193582 }} *{{cite journal | author=Kamatani N, Kuroshima S, Terai C, ''et al.'' |title=Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage |journal=Am. J. Hum. Genet. |volume=45 |issue= 2 |pages= 325–31 |year= 1989 |pmid= 2502918 |doi= | pmc=1683345 }} *{{cite journal | author=Hidaka Y, Tarlé SA, Fujimori S, ''et al.'' |title=Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese |journal=J. Clin. Invest. |volume=81 |issue= 3 |pages= 945–50 |year= 1988 |pmid= 3343350 |doi=10.1172/JCI113408 | pmc=442550 }} *{{cite journal | author=Wilson JM, O'Toole TE, Argos P, ''et al.'' |title=Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme |journal=J. Biol. Chem. |volume=261 |issue= 29 |pages= 13677–83 |year= 1986 |pmid= 3531209 |doi= }} *{{cite journal | author=Broderick TP, Schaff DA, Bertino AM, ''et al.'' |title=Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 10 |pages= 3349–53 |year= 1987 |pmid= 3554238 |doi=10.1073/pnas.84.10.3349 | pmc=304867 }} *{{cite journal | author=Hidaka Y, Palella TD, O'Toole TE, ''et al.'' |title=Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme |journal=J. Clin. Invest. |volume=80 |issue= 5 |pages= 1409–15 |year= 1987 |pmid= 3680503 |doi=10.1172/JCI113219 | pmc=442397 }} *{{cite journal | author=Hidaka Y, Tarlé SA, O'Toole TE, ''et al.'' |title=Nucleotide sequence of the human APRT gene |journal=Nucleic Acids Res. |volume=15 |issue= 21 |pages= 9086 |year= 1988 |pmid= 3684585 |doi=10.1093/nar/15.21.9086 | pmc=306432 }} *{{cite journal | author=Chen J, Sahota A, Martin GF, ''et al.'' |title=Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87 |journal=Mutat. Res. |volume=287 |issue= 2 |pages= 217–25 |year= 1993 |pmid= 7685481 |doi= 10.1016/0027-5107(93)90014-7}} *{{cite journal | author=Sahota A, Chen J, Boyadjiev SA, ''et al.'' |title=Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis |journal=Hum. Mol. Genet. |volume=3 |issue= 5 |pages= 817–8 |year= 1994 |pmid= 7915931 |doi=10.1093/hmg/3.5.817 }} {{refend}} ==External links== * {{MeshName|Adenine+phosphoribosyltransferase}} {{PDB Gallery|geneid=353}} {{Glycosyltransferases}} {{Nucleotide metabolism}} [[Category:EC 2.4.2]] {{transferase-stub}} [[de:Adenin-Phosphoribosyltransferase]] [[es:Adenina fosforribosiltransferasa]]'