GPT2, Official Symbol GPT2provided by HGNC Official Full Name glutamic--pyruvic transaminase 2provided by HGNC Primary source HGNC:HGNC:18062 See related Ensembl:ENSG00000166123 MIM:138210; AllianceGenome:HGNC:18062 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALT2; GPT 2; MRT49; NEDSPM Summary This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Broad expression in fat (RPKM 41.2), pancreas (RPKM 29.0) and 15 other tissues See more Orthologs mouse all