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Beschreibung

Glutaminase kidney isoform, mitochondrial (UniProt: O94925, also known as EC:3.5.1.2, GLS, K-glutaminase, L-glutamine amidohydrolase) is encoded by the GLS (also known as GLS1, KIAA0838) gene (Gene ID: 2744) in human. GLS catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. It is primarily expressed in the brain and kidney and plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. During normal acid-base balance, the kidney extraction of plasma glutamine is low, however, during metabolic acidosis, about one third of the plasma glutamine is extracted and metabolized in a single pass through kidneys. Three isoforms of glutaminase have been described in humans. They are produced via alternate splicing. Isoform 1 and 3 are activated by phosphate, while the isoform 3 lacks catalytic activity. Isoform 1 is highly expressed in brain and kidney, but is not detected in liver. On the other hand, isoform 3 is highly expressed in astrocytoma, ganglioglioma, ependymoma. Lower levels of isoform 3 are reported in placenta, lung, pancreas and kidney, but it is not detected in liver. Isoform 2 is expressed in cardiac and skeletal muscle.