AGXT


AGXT

Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase), also known as AGXT, is a human gene.cite web | title = Entrez Gene: AGXT alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=189| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria.cite web | title = Entrez Gene: AGXT alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=189| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Danpure CJ |title=Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. |journal=Biochimie |volume=75 |issue= 3-4 |pages= 309–15 |year= 1993 |pmid= 8507692 |doi=
*cite journal | author=Danpure CJ |title=Molecular etiology of primary hyperoxaluria type 1: new directions for treatment. |journal=Am. J. Nephrol. |volume=25 |issue= 3 |pages= 303–10 |year= 2005 |pmid= 15961951 |doi= 10.1159/000086362
*cite journal | author=Minatogawa Y, Tone S, Allsop J, "et al." |title=A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. |journal=Hum. Mol. Genet. |volume=1 |issue= 8 |pages= 643–4 |year= 1993 |pmid= 1301173 |doi=
*cite journal | author=Purdue PE, Lumb MJ, Allsop J, "et al." |title=A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. |journal=Genomics |volume=13 |issue= 1 |pages= 215–8 |year= 1992 |pmid= 1349575 |doi=
*cite journal | author=Purdue PE, Takada Y, Danpure CJ |title=Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. |journal=J. Cell Biol. |volume=111 |issue= 6 Pt 1 |pages= 2341–51 |year= 1991 |pmid= 1703535 |doi=
*cite journal | author=Purdue PE, Allsop J, Isaya G, "et al." |title=Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 23 |pages= 10900–4 |year= 1992 |pmid= 1961759 |doi=
*cite journal | author=Nishiyama K, Funai T, Katafuchi R, "et al." |title=Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. |journal=Biochem. Biophys. Res. Commun. |volume=176 |issue= 3 |pages= 1093–9 |year= 1991 |pmid= 2039493 |doi=
*cite journal | author=Purdue PE, Lumb MJ, Fox M, "et al." |title=Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. |journal=Genomics |volume=10 |issue= 1 |pages= 34–42 |year= 1991 |pmid= 2045108 |doi=
*cite journal | author=Nishiyama K, Berstein G, Oda T, Ichiyama A |title=Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase. |journal=Eur. J. Biochem. |volume=194 |issue= 1 |pages= 9–18 |year= 1991 |pmid= 2253628 |doi=
*cite journal | author=Takada Y, Kaneko N, Esumi H, "et al." |title=Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. |journal=Biochem. J. |volume=268 |issue= 2 |pages= 517–20 |year= 1990 |pmid= 2363689 |doi=
*cite journal | author=Danpure CJ, Jennings PR |title=Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. |journal=FEBS Lett. |volume=201 |issue= 1 |pages= 20–4 |year= 1986 |pmid= 3709805 |doi=
*cite journal | author=Danpure CJ, Fryer P, Jennings PR, "et al." |title=Evolution of alanine:glyoxylate aminotransferase 1 peroxisomal and mitochondrial targeting. A survey of its subcellular distribution in the livers of various representatives of the classes Mammalia, Aves and Amphibia. |journal=Eur. J. Cell Biol. |volume=64 |issue= 2 |pages= 295–313 |year= 1995 |pmid= 7813517 |doi=
*cite journal | author=Danpure CJ, Purdue PE, Fryer P, "et al." |title=Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. |journal=Am. J. Hum. Genet. |volume=53 |issue= 2 |pages= 417–32 |year= 1993 |pmid= 8101040 |doi=
*cite journal | author=Minatogawa Y, Kawai C, Hatada S, Sato M |title=Liver specific kynurenine(alanine):glyoxylate aminotransferase was expressed in kidney cell line. |journal=Adv. Exp. Med. Biol. |volume=398 |issue= |pages= 471–6 |year= 1997 |pmid= 8906307 |doi=
*cite journal | author=von Schnakenburg C, Rumsby G |title=Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. |journal=J. Med. Genet. |volume=34 |issue= 6 |pages= 489–92 |year= 1997 |pmid= 9192270 |doi=
*cite journal | author=Amoroso A, Pirulli D, Puzzer D, "et al." |title=Gene symbol: AGXT. Disease: primary hyperoxaluria type I. |journal=Hum. Genet. |volume=104 |issue= 5 |pages= 441 |year= 1999 |pmid= 10394939 |doi=
*cite journal | author=Pirulli D, Puzzer D, Ferri L, "et al." |title=Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. |journal=Hum. Genet. |volume=104 |issue= 6 |pages= 523–5 |year= 1999 |pmid= 10453743 |doi=
*cite journal | author=Basmaison O, Rolland MO, Cochat P, Bozon D |title=Identification of 5 novel mutations in the AGXT gene. |journal=Hum. Mutat. |volume=15 |issue= 6 |pages= 577 |year= 2000 |pmid= 10862087 |doi= 10.1002/1098-1004(200006)15:6<577::AID-HUMU9>3.0.CO;2-# |doilabel=10.1002/1098-1004(200006)15:6577::AID-HUMU93.0.CO;2-#
*cite journal | author=Lumb MJ, Danpure CJ |title=Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. |journal=J. Biol. Chem. |volume=275 |issue= 46 |pages= 36415–22 |year= 2000 |pmid= 10960483 |doi= 10.1074/jbc.M006693200

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