Glutaminase kidney isoform
Mammalian protein found in Homo sapiens
From Wikipedia, the free encyclopedia
Glutaminase kidney isoform (sometimes ambiguously just called glutaminase) is an enzyme that in humans is encoded by the GLS gene.[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]
| GLS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | GLS, AAD20, GAC, GAM, GLS1, KGA, glutaminase, EIEE71, CASGID, GDPAG, DEE71, K-glutaminase | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 138280; MGI: 95752; GeneCards: GLS | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Transcripts
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]
Medical Significance
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]
