AGXT

AGXT

Abbrev. for alanine glyoxalate aminotransferase, an ENZYME necessary for the metabolism in the liver of the amino acid alanine. The gene that codes for this protein is on the long arm of chromosome number 2. Mutations of this gene results in increased oxalate in the urine with kidney stones and even fatal kidney failure. Prenatal genetic diagnosis is possible.
References in periodicals archive ?
Mutations to AGXT can lead to kidney stones and primary hyperoxaluria.
PH1 is a rare, inherited genetic disorder of the AGXT gene in the liver which causes excess oxalate production.
Tip I PH, hepatik peroksimal anzim alanin-glikolat aminotransferazda (AGT) fonksiyonel hasara yol acan AGXT genindeki mutasyonlarla olusur.
Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions.
La hiperoxaluria primaria mas frecuente es la tipo I, debido a la mutacion en el gen AGXT de la enzima alanina-glioxilato aminotrasferasa, enzima que metaboliza glioxilato para convertirlo en glicina, el gen esta localizado en el extremo del brazo largo del cromosoma 2-2q37) (3- 5).
The 1st step in the diagnostic process involves measurement of urinary oxalate, glycolate, and/or Lglycerate, followed by enzymatic analysis of AGT (in liver) or GR/ HPR (in lymphocytes), or genetic testing of the AGXT gene for PH1 or the GRHPR gene for PH2.
One patient had PH1, confirmed by detection of a G1y170Arg mutation on the so-called minor allele of the AGXT gene.
The minor AGXT allele has a frequency of 15%-20% in European and North American populations (6) but a much higher frequency, ~50%, among PH1 patients (7).
Intronic primers, based on the genomic sequence of AGXT in a chromosome 2 contig (GenBank accession no.
Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria.
This makes it impossible to "easily distinguish different types of AGXT mutations" as claimed by Pirulli et al.