Full name: glutamic--pyruvic transaminase 2

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 46928bp

Exon count: 13