present in Gene: AGXT
present in Chromosome: 2
Position on Chromosome: 240871379
Alleles of this Variant: T/A
rs121908524 in
AGXT gene and
Primary Hyperoxaluria
PMID 22844106 2012 Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.
PMID 17460142 2007 Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
rs121908524 in
AGXT gene and
Primary hyperoxaluria, type I
PMID 1349575 1992 A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.
PMID 24988064 2014 Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
PMID 1301173 1992 A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
PMID 2039493 1991 Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.
PMID 10960483 2000 Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
PMID 24934730 2014 Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
PMID 12559847 2003 The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
PMID 17495019 2007 Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
PMID 16971151 2006 Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
PMID 10862087 2000 Identification of 5 novel mutations in the AGXT gene.
PMID 15849466 2005 Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
PMID 24055001 2013 Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
PMID 15963748 2006 The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
PMID 17460142 2007 Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
PMID 10394939 1999 Gene symbol: AGXT. Disease: primary hyperoxaluria type I.
PMID 12777626 2003 Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
PMID 10453743 1999 Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
PMID 23229545 2013 Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
PMID 8101040 1993 Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
PMID 15253729 2004 Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome.
PMID 9604803 1998 Identification of new mutations in primary hyperoxaluria type 1 (PH1).
PMID 22547750 2012 Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
PMID 9192270 1997 Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.