Aliases for GPT2 Gene
External Ids for GPT2 Gene
Previous GeneCards Identifiers for GPT2 Gene
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]
GeneCards Summary for GPT2 Gene
GPT2 (Glutamic--Pyruvic Transaminase 2) is a Protein Coding gene. Diseases associated with GPT2 include Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly and Rare Genetic Intellectual Disability. Among its related pathways are Carbon metabolism and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and L-alanine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is GPT.
UniProtKB/Swiss-Prot Summary for GPT2 Gene
Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.