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Article

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

PloS one - 1 Jan 2014

Lage Melissa D, Pittman Adrianne M C, Roncador Alessandro, Cellini Barbara, Tucker Chandra L

Abstract excerpt

Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with PH1. While some of the mutations have been found to affect enzyme activity, stability, and/or localization,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24718375
DOI: 10.1371/journal.pone.0094338
PMCID: PMC3981788

Genes

AGT

Provenance

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