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Article

Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.

Biochimica et biophysica acta - 1 Nov 2011

Cellini Barbara, Montioli Riccardo, Voltattorni Carla Borri

Abstract excerpt

The hepatic peroxisomal alanine:glyoxylate aminotransferase (AGT) is a pyridoxal 5'-phosphate (PLP)-enzyme whose deficiency is responsible for Primary Hyperoxaluria Type 1 (PH1), an autosomal recessive disorder. In the last few years the knowledge of the characteristics of AGT and the transfer of this information into some pathogenic variants have significantly contributed to the improvement of the understanding...

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Identifiers

PMID: 21176891
DOI: 10.1016/j.bbapap.2010.12.005

Genes

AGT

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Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.PMID 21176891Read ↗

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