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Article

Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.

The Journal of biological chemistry - 27 Mar 2009

Cellini Barbara, Montioli Riccardo, Paiardini Alessandro, Lorenzetto Antonio, Voltattorni Carla Borri

Abstract excerpt

Human liver peroxisomal alanine:glyoxylate aminotransferase (AGT) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that converts glyoxylate into glycine. AGT deficiency causes primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, due to a marked increase in hepatic oxalate production. Normal human AGT exists as two polymorphic variants: the major (AGT-Ma) and the minor (AGT-Mi) allele. AGT-Mi...

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Topics

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Share to Amino Acid Substitution
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycine

Share to Glyoxylates

Share to Mutation, Missense

Share to Peroxisomes

Share to Transaminases

Source

Open in PubMed Open full text

Identifiers

PMID: 19155213
DOI: 10.1074/jbc.M808965200
PMCID: PMC2659193

Genes

AGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.PMID 19155213Read ↗

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