Adenine phosphoribosyltransferase

Adenine phosphoribosyltransferase, also known as APRT, is a human gene.cite web | title = Entrez Gene: APRT adenine phosphoribosyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=353| accessdate = ]

The protein encoded by this gene, 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 AMP. APRTase is labeled as EC number|2.4.2.7.

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 is also known as "adenine phosphoribosyltransferase deficiency".

References

Further reading

PBB_Further_reading
citations =
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=
*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=

External links

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