AGXT2
LOCUS ID64902
GENE_SYMBOLAGXT2
GENE NAMEalanine--glyoxylate
SYNONYMNSAGT2 DAIBAT
CHROMOSOME5
HOMOLOGENE ID12887
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript varia

OBSERVATIONS

Complication Evidence PMID
Cardiovascular1. Considering a strong association between human HNF4A polymorphisms and increased risk of type 2 diabetes our current findings suggest that downregulation of AGXT2 and subsequent impairment in metabolism of dimethylarginines and BAIB caused by HNF4alpha deficiency might contribute to development of cardiovascular complications in diabetic patients.27752141