GPT2 Human

The GPT2 gene is located on chromosome 16 at the position 16q11.2 . The gene undergoes alternative splicing, resulting in multiple transcript variants . The protein encoded by GPT2 is a pyridoxal enzyme, which means it requires pyridoxal phosphate (a form of vitamin B6) as a cofactor for its enzymatic activity .

GPT2 is primarily involved in the catabolism of L-alanine and the biosynthesis of cellular amino acids . It is expressed in various tissues, including skeletal muscle, liver, kidney, and pancreas . The enzyme’s activity is crucial for maintaining the balance of amino acids and for the production of glucose from non-carbohydrate sources, a process known as gluconeogenesis .

Under metabolic stress conditions, the expression of GPT2 is upregulated by activating transcription factor 4 (ATF4) in hepatocyte cell lines . This regulation ensures that the enzyme is available to meet the increased metabolic demands during stress.

Mutations in the GPT2 gene have been associated with developmental encephalopathy, a condition characterized by severe developmental delays and neurological abnormalities . Additionally, GPT2 is linked to other metabolic disorders, such as Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly and Glycogen Storage Disease III .

Recombinant forms of GPT2 are used in research to study its structure, function, and role in various metabolic pathways. These studies help in understanding the enzyme’s involvement in metabolic diseases and in developing potential therapeutic interventions.

In summary, Glutamic-Pyruvate Transaminase 2 (Human Recombinant) is a vital enzyme with significant roles in amino acid metabolism and gluconeogenesis. Its regulation and function are crucial for maintaining metabolic homeostasis, and mutations in the GPT2 gene can lead to severe metabolic disorders.