The C-terminal ANK repeats prevent the assembly of the supra-tetrameric filaments.
A highly mobile activation loop at the dimer-dimer interface is important for enzyme activity.
Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain (PubMed:30239721, PubMed:30575854, PubMed:30970188).
Isoform 2
Lacks catalytic activity.
Developmental and epileptic encephalopathy 71
DEE71
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
CASGID
An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis.
None
The disease is caused by variants affecting the gene represented in this entry.
Global developmental delay, progressive ataxia, and elevated glutamine
GDPAG
An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels.
None
The disease is caused by variants affecting the gene represented in this entry.
Synthesized as a 74-kDa cytosolic precursor which is proteolytically processed by the mitochondrial-processing peptidase (MPP) via a 72-kDa intermediate to yield the mature mitochondrial 68- and 65-kDa subunits.
Belongs to the glutaminase family.
Isoform 1 and isoform 3 are detected in brain cortex. Isoform 3 is highly expressed in astrocytoma, ganglioglioma and ependymoma. Isoform 1 is highly expressed in brain and kidney, but not detected in liver. Isoform 3 is highly expressed in heart and pancreas, detected at lower levels in placenta, lung, pancreas and kidney, but is not detected in liver. Isoform 2 is expressed in cardiac and skeletal muscle.
GLS1, KIAA0838, GLS, K-glutaminase, L-glutamine amidohydrolase
Proteins
Metabolism
65460Da
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