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Glutaminase kidney isoform (sometimes ambiguously just called glutaminase) is an enzyme that in humans is encoded by the GLSgene.[5] This protein is a type of glutaminase found in the mitochondria of kidney and brain cells.[5] It is involved in both breaking down the amino acid glutamine in the kidneys, and regulating the levels of glutamate (a neurotransmitter and amino acid) in the brain.[6]
The gene GLS encodes three separate isoforms. Isoform 1 (or KGA) and isoform 3 (or Glutaminase C) are functional enzymes, while isoform 2 (or GAM) shows no enzyme activity.[6] Isoform 1 is expressed in the brain and kidneys, while isoform 3 is mostly expressed in the brain, heart and pancreas.[6] Neither isoform is expressed in the liver, distinguishing it from the glutaminase encoded by GLS2.[6] Despite predictions that suggested that isoform 3 should undergo nonsense-mediated decay, it is highly expressed.[6]
Pathogenic mutations in this gene have been associated with a number of diseases, including Developmental and epileptic encephalopathy 71 (DEE71), CASGID syndrome, and Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG).[6]
