- Adenina fosforribosiltransferasa
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Adenina fosforribosiltransferasa
Diagrama de cintas de un dímero de APRT humana unida a PRPP, a adenina y a ribosa 5-fosfato. En verde se puede apreciar un ion magnesio. Disponible en PDB 1ZN7.Símbolo APRT; AMP; DKFZp686D13177; MGC125856; MGC125857; MGC129961 Datos genéticos Locus Cr. 16 q24.3 Bases de datos Número EC 2.4.2.7 Entrez 353 OMIM 102600 RefSeq NP_000476 UniProt P07741 La adenina fosforribosiltransferasa, también conocida como APRT, es una enzima codificada en el cromosoma 16 humano,[1] involucrada en la biosíntesis de purinas mediante la ruta de rescate de nucleótidos. Su función es catalizar la reacción entre la adenina y el fosforribosil pirofosfato (PRPP) para formar AMP. La APRT posee el EC 2.4.2.7 .
La APRT se encuentra funcionalmente relacionada con la hipoxantina-guanina fosforribosiltransferasa (HPRT).
Contenido
Patología
La deficiencia de APRT en el ser humano puede producir cálculos renales, formados a partir de adenina y sales, dando lugar a una patología denominada 2,8 dihidroxi-adenina urolitiasis.
Referencias
Información adicional
- Tischfield JA, Engle SJ, Gupta PK, et al. (1995). «Germline and somatic mutation at the APRT locus of mice and man.». Adv. Exp. Med. Biol. 370: pp. 661–4. PMID 7660991.
- Takeuchi H, Kaneko Y, Fujita J, Yoshida O (1993). «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.». J. Urol. 149 (4): pp. 824–6. PMID 8455250.
- Ludwig H, Kuzmits R, Pietschmann H, Müller MM (1980). «Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.». Blut 39 (5): pp. 309–15. PMID 116697.
- Johnson LA, Gordon RB, Emmerson BT (1977). «Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.». Biochem. Genet. 15 (3-4): pp. 265–72. PMID 869896.
- Kamatani N, Hakoda M, Otsuka S, et al. (1992). «Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.». J. Clin. Invest. 90 (1): pp. 130–5. PMID 1353080.
- Chen J, Sahota A, Laxdal T, et al. (1992). «Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.». Am. J. Hum. Genet. 49 (6): pp. 1306–11. PMID 1746557.
- Mimori A, Hidaka Y, Wu VC, et al. (1991). «A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.». Am. J. Hum. Genet. 48 (1): pp. 103–7. PMID 1985452.
- Chen J, Sahota A, Stambrook PJ, Tischfield JA (1991). «Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.». Mutat. Res. 249 (1): pp. 169–76. PMID 2067530.
- Gathof BS, Sahota A, Gresser U, et al. (1992). «Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.». Klin. Wochenschr. 69 (24): pp. 1152–5. PMID 2135300.
- Kamatani N, Kuroshima S, Hakoda M, et al. (1990). «Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.». Hum. Genet. 85 (6): pp. 600–4. PMID 2227951.
- Kamatani N, Kuroshima S, Terai C, et al. (1989). «Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.». Am. J. Hum. Genet. 45 (2): pp. 325–31. PMID 2502918.
- Hidaka Y, Tarlé SA, Fujimori S, et al. (1988). «Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.». J. Clin. Invest. 81 (3): pp. 945–50. PMID 3343350.
- Wilson JM, O'Toole TE, Argos P, et al. (1986). «Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.». J. Biol. Chem. 261 (29): pp. 13677–83. PMID 3531209.
- Broderick TP, Schaff DA, Bertino AM, et al. (1987). «Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.». Proc. Natl. Acad. Sci. U.S.A. 84 (10): pp. 3349–53. PMID 3554238.
- Hidaka Y, Palella TD, O'Toole TE, et al. (1987). «Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.». J. Clin. Invest. 80 (5): pp. 1409–15. PMID 3680503.
- Hidaka Y, Tarlé SA, O'Toole TE, et al. (1988). «Nucleotide sequence of the human APRT gene.». Nucleic Acids Res. 15 (21): pp. 9086. PMID 3684585.
- Chen J, Sahota A, Martin GF, et al. (1993). «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.». Mutat. Res. 287 (2): pp. 217–25. PMID 7685481.
- Sahota A, Chen J, Boyadjiev SA, et al. (1994). «Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.». Hum. Mol. Genet. 3 (5): pp. 817–8. PMID 7915931.
Enlaces externos
Categorías:- Genes del cromosoma 16
- Proteínas humanas
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