Aliases for AGXT2 Gene
External Ids for AGXT2 Gene
Previous GeneCards Identifiers for AGXT2 Gene
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 variants. [provided by RefSeq, Apr 2015]
GeneCards Summary for AGXT2 Gene
AGXT2 (Alanine--Glyoxylate Aminotransferase 2) is a Protein Coding gene. Diseases associated with AGXT2 include Beta-Aminoisobutyric Aciduria and Primary Hyperoxaluria. Among its related pathways are Valine, leucine and isoleucine degradation and Glyoxylate metabolism and glycine degradation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and alanine-glyoxylate transaminase activity. An important paralog of this gene is ETNPPL.
UniProtKB/Swiss-Prot Summary for AGXT2 Gene
Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.