Gene Symbol | GPT2 |
Entrez Gene ID | 84706 |
Full Name | glutamic--pyruvic transaminase 2 |
Synonyms | ALT2,GPT 2,MRT49 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 49, 616281 (3) |