Glutaminase kidney isoform, mitochondrial

Definition:

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.; [Isoform 2]: Lacks catalytic activity.

References:

[1]. André B P van Kuilenburg, et al. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. N Engl J Med. 2019 Apr 11;380(15):1433-1441. [Content Brief]

[2]. Lynne Rumping, et al. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. Hum Mol Genet. 2019 Jan 1;28(1):96-104. [Content Brief]

[3]. K M Elgadi, et al. Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing. Physiol Genomics. 1999 Aug 31;1(2):51-62. [Content Brief]

[4]. Lynne Rumping, et al. Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. JAMA Neurol. 2019 Mar 1;76(3):342-350. [Content Brief]

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