rs1558973667

This variant is located in the GLS gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Global developmental delay, progressive ataxia, and elevated glutamine

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About GLS

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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