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DEE71

Chr 2AR

glutaminase

Also known as: AAD20, CASGID, DEE71, EIEE71, GAC, GAM, GDPAG, GLS1

NCBI Gene: 2744 OMIM: 618328

The encoded protein is a phosphate-activated mitochondrial glutaminase that catalyzes the hydrolysis of glutamine to glutamate and ammonia, serving essential roles in energy metabolism, glutamate neurotransmitter synthesis in the brain, and acid-base balance in the kidney. Mutations cause developmental and epileptic encephalopathy 71, which follows autosomal recessive inheritance. This condition affects both neurological development and seizure control, reflecting the protein's critical role in brain glutamate production.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…