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-ba... See more...

Aliases for GLS Gene

Aliases for GLS Gene

  • Glutaminase 2 3 5
  • Glutaminase Kidney Isoform, Mitochondrial 3 4
  • L-Glutamine Amidohydrolase 3 4
  • K-Glutaminase 3 4
  • EC 3.5.1.2 4 52
  • GLS1 3 4
  • Glutaminase, Phosphate-Activated 3
  • Glutaminase C 3
  • KIAA0838 4
  • CASGID 3
  • EIEE71 3
  • AAD20 3
  • GDPAG 3
  • GAC 3
  • GAM 3
  • KGA 3

External Ids for GLS Gene

Previous GeneCards Identifiers for GLS Gene

  • GC02P189939
  • GC02P190448
  • GC02P191709
  • GC02P191948
  • GC02P191931
  • GC02P191571
  • GC02P191453
  • GC02P183605

Summaries for GLS Gene

Entrez Gene Summary for GLS Gene

  • 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]

GeneCards Summary for GLS Gene

GLS (Glutaminase) is a Protein Coding gene. Diseases associated with GLS include Epileptic Encephalopathy, Early Infantile, 71 and Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine. Among its related pathways are Circadian entrainment and Gene Expression. Gene Ontology (GO) annotations related to this gene include glutaminase activity. An important paralog of this gene is GLS2.

UniProtKB/Swiss-Prot Summary for GLS Gene

  • 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:30575854, PubMed:30239721, PubMed:30970188).
  • [Isoform 2]: Lacks catalytic activity.

Tocris Summary for GLS Gene

  • Glutaminase (GLS) is an aminohydrolase enzyme, EC 3.5.1.2, which catalyzes the conversion of the amino acid glutamine to glutamate. Two GLS isoforms have been identified to date, GLS1 (KGA; kidney-type glutaminase) and GLS2 (LGA; liver-type glutaminase).

Additional gene information for GLS Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLS Gene

Genomics for GLS Gene

GeneHancer (GH) Regulatory Elements for GLS Gene

Promoters and enhancers for GLS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLS on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLS

Top Transcription factor binding sites by QIAGEN in the GLS gene promoter:
  • AP-2beta
  • AP-2gamma
  • C/EBPalpha
  • CHOP-10
  • E47
  • RSRFC4
  • STAT3
  • Tal-1beta
  • USF-1
  • USF1

Genomic Locations for GLS Gene

Genomic Locations for GLS Gene
chr2:190,880,821-190,965,552
(GRCh38/hg38)
Size:
84,732 bases
Orientation:
Plus strand
chr2:191,745,547-191,830,278
(GRCh37/hg19)
Size:
84,732 bases
Orientation:
Plus strand

Genomic View for GLS Gene

Genes around GLS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLS Gene

Proteins for GLS Gene

  • Protein details for GLS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94925-GLSK_HUMAN
    Recommended name:
    Glutaminase kidney isoform, mitochondrial
    Protein Accession:
    O94925
    Secondary Accessions:
    • Q9UL05
    • Q9UL06
    • Q9UL07
    • Q9UN40

    Protein attributes for GLS Gene

    Size:
    669 amino acids
    Molecular mass:
    73461 Da
    Quaternary structure:
    • Homotetramer, dimer of dimers (PubMed:22538822, PubMed:26988803, PubMed:28526749, PubMed:29317493). The tetramers can assemble into rod-like oligomers (in vitro), but the physiological significance of this is not clear (By similarity). Interacts with RAF1 and MAP2K2 (PubMed:22538822). Interacts with ATCAY; the interaction is direct and may control GLS localization, negatively regulating its activity.
    SequenceCaution:
    • Sequence=BAA74861.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GLS Gene

    Alternative splice isoforms for GLS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLS Gene

Selected DME Specific Peptides for GLS Gene

O94925:
  • KFVIPDF
  • NPMVNAGAI
  • EAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKS
  • GKVADYIP
  • CSIEVTC
  • PFCLQSCVKPL
  • VGKEPSG
  • AIGYYLKEKKCFP
  • SNIVLLTQAFR
  • DLLFYTIAEGQE
  • GFSNATFQSE
  • DYDSRTALHVAAAEGH
  • ILLVVPNVMGMMC

Post-translational modifications for GLS Gene

  • 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.
  • Glycosylation at Asn620
  • Ubiquitination at Lys121 and Lys158
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for GLS Gene

Gene Families for GLS Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for GLS Gene

Suggested Antigen Peptide Sequences for GLS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55236, highly similar to Glutaminase kidney isoform, mitochondrial (EC 3.5.1.2) (B7Z509_HUMAN)
  • L-glutamine amidohydrolase (GLSK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94925

UniProtKB/Swiss-Prot:

GLSK_HUMAN :
  • The C-terminal ANK repeats prevent the assembly of the supra-tetrameric filaments.
  • Belongs to the glutaminase family.
Domain:
  • 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.
Family:
  • Belongs to the glutaminase family.
genes like me logo Genes that share domains with GLS: view

Function for GLS Gene

Molecular function for GLS Gene

UniProtKB/Swiss-Prot Function:
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:30575854, PubMed:30239721, PubMed:30970188).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Lacks catalytic activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-glutamine = L-glutamate + NH4(+); Xref=Rhea:RHEA:15889, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:29985, ChEBI:CHEBI:58359; EC=3.5.1.2; Evidence={ECO:0000269 PubMed:22049910, ECO:0000269 PubMed:22538822, ECO:0000269 PubMed:24451979, ECO:0000269 PubMed:26988803, ECO:0000269 PubMed:28526749, ECO:0000269 PubMed:29317493};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Isoform 1 and isoform 3 are activated by phosphate. Inhibited by BPTES. BPTES binds between subunits and favors dissociation of the tetramer into dimers (PubMed:22049910). Inhibited by 6-diazo-5-oxo-L-norleucine (DON) (PubMed:24451979). Enzyme activity is stimulated by phosphorylation (PubMed:22538822).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.9 mM for glutamine (isoform 1) {ECO:0000269 PubMed:22049910}; KM=1.4 mM for glutamine (isoform 3) {ECO:0000269 PubMed:22049910};
GENATLAS Biochemistry:
glutaminase,phosphate-dependent,ammonia formation

Enzyme Numbers (IUBMB) for GLS Gene

Phenotypes From GWAS Catalog for GLS Gene

Gene Ontology (GO) - Molecular Function for GLS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004359 glutaminase activity NAS,IEA 10719215
GO:0005515 protein binding IPI,IEA 16899818
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GLS: view
genes like me logo Genes that share phenotypes with GLS: view

Human Phenotype Ontology for GLS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLS Gene

MGI Knock Outs for GLS:
  • Gls Gls<tm1Sray>
  • Gls Gls<tm1a(KOMP)Mbp>

Animal Model Products

miRNA for GLS Gene

miRTarBase miRNAs that target GLS

Clone Products

  • Addgene plasmids for GLS

No data available for Transcription Factor Targets and HOMER Transcription for GLS Gene

Localization for GLS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLS Gene

[Isoform 1]: Mitochondrion. Cytoplasm, cytosol. Note=The 74-kDa cytosolic precursor is translocated into the mitochondria and processed via a 72-kDa intermediate to yield the mature 68- and 65-kDa subunits. {ECO:0000250 UniProtKB:P13264}.
[Isoform 3]: Mitochondrion.
[Glutaminase kidney isoform, mitochondrial 68 kDa chain]: Mitochondrion matrix. Note=Produced by the proteolytic processing of the 74-kDa cytosolic precursor. {ECO:0000250 UniProtKB:P13264}.
[Glutaminase kidney isoform, mitochondrial 65 kDa chain]: Mitochondrion matrix. Note=Produced by the proteolytic processing of the 74-kDa cytosolic precursor. {ECO:0000250 UniProtKB:P13264}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLS gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 3
nucleus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GLS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,NAS 10719215
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with GLS: view

Pathways & Interactions for GLS Gene

genes like me logo Genes that share pathways with GLS: view

Gene Ontology (GO) - Biological Process for GLS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001967 suckling behavior IEA --
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006537 glutamate biosynthetic process IBA,TAS 21757002
GO:0006541 glutamine metabolic process IEA --
GO:0006543 glutamine catabolic process NAS,IBA 10719215
genes like me logo Genes that share ontologies with GLS: view

No data available for SIGNOR curated interactions for GLS Gene

Drugs & Compounds for GLS Gene

(58) Drugs for GLS Gene - From: DrugBank, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
esculin Approved Pharma Enzyme, substrate 0
Indocyanine green acid form Approved, Investigational Pharma Enzyme, catalytic activity 0
Empagliflozin Approved Pharma Inhibition, Inhibitor 223

(21) Additional Compounds for GLS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for GLS Gene

Compound Action Cas Number
BPTES GLS inhibitor 314045-39-1
genes like me logo Genes that share compounds with GLS: view

Drug Products

Transcripts for GLS Gene

mRNA/cDNA for GLS Gene

2 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for GLS

Alternative Splicing Database (ASD) splice patterns (SP) for GLS Gene

No ASD Table

Relevant External Links for GLS Gene

GeneLoc Exon Structure for
GLS

Expression for GLS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLS Gene

This gene is overexpressed in Brain (14.5) and Frontal cortex (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLS Gene



Protein tissue co-expression partners for GLS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLS

SOURCE GeneReport for Unigene cluster for GLS Gene:

Hs.116448

mRNA Expression by UniProt/SwissProt for GLS Gene:

O94925-GLSK_HUMAN
Tissue specificity: 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.

Evidence on tissue expression from TISSUES for GLS Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Kidney(4.2)
  • Pancreas(3.1)
  • Heart(2.8)
  • Muscle(2.6)
  • Intestine(2.5)
  • Lung(2.3)
  • Blood(2.2)
  • Spleen(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with GLS: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLS Gene

Orthologs for GLS Gene

This gene was present in the common ancestor of animals.

Orthologs for GLS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLS 31 30
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLS 31 30
  • 92.46 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLS 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gls 17 31 30
  • 90.79 (n)
dog
(Canis familiaris)
Mammalia GLS 31 30
  • 90.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gls 30
  • 90.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GLS 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLS 31 30
  • 80.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLS 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gls 30
  • 81.39 (n)
zebrafish
(Danio rerio)
Actinopterygii glsa 31 30
  • 72.99 (n)
OneToMany
glsb 31
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42708 31 30
  • 56.53 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea glna-2 31 30
  • 57.33 (n)
ManyToMany
DH11.1 32
  • 48 (a)
C09F9.3a 32
  • 45 (a)
C09F9.3b 32
  • 45 (a)
glna-3 31
  • 41 (a)
ManyToMany
glna-1 31
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3937 31
  • 38 (a)
OneToOne
Species where no ortholog for GLS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLS Gene

ENSEMBL:
Gene Tree for GLS (if available)
TreeFam:
Gene Tree for GLS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLS: view image

Paralogs for GLS Gene

Paralogs for GLS Gene

(2) SIMAP similar genes for GLS Gene using alignment to 10 proteins:

  • GLSK_HUMAN
  • B7Z509_HUMAN
  • B8ZZA8_HUMAN
  • B8ZZC5_HUMAN
  • C9JIJ6_HUMAN
  • H7BZD1_HUMAN
  • H7C201_HUMAN
  • Q53RX0_HUMAN
  • Q53S89_HUMAN
  • Q53TX0_HUMAN
genes like me logo Genes that share paralogs with GLS: view

Variants for GLS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLS Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
626335 Pathogenic: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE 190,880,872(+) C/CGCAGCAGCAGCAG FIVE_PRIME_UTR_VARIANT
720765 Benign: not provided 190,953,597(+) A/C SYNONYMOUS_VARIANT
809127 Uncertain Significance: not provided 190,923,960(+) G/A MISSENSE_VARIANT
rs1212883982 Pathogenic: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE 190,905,110(+) T/TA NONSENSE
rs1558971345 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 190,900,652(+) G/GA FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for GLS Gene

Structural Variations from Database of Genomic Variants (DGV) for GLS Gene

Variant ID Type Subtype PubMed ID
nsv3083 CNV insertion 18451855
nsv584064 CNV gain 21841781
nsv584065 CNV loss 21841781
nsv819974 CNV loss 19587683
nsv834493 CNV gain 17160897
nsv954449 CNV duplication 24416366
nsv999391 CNV gain 25217958

Variation tolerance for GLS Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLS Gene

Human Gene Mutation Database (HGMD)
GLS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLS Gene

Disorders for GLS Gene

MalaCards: The human disease database

(17) MalaCards diseases for GLS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

GLSK_HUMAN
  • Epileptic encephalopathy, early infantile, 71 (EIEE71) [MIM:618328]: 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. EIEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life. {ECO:0000269 PubMed:30575854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) [MIM:618339]: 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. {ECO:0000269 PubMed:30239721}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) [MIM:618412]: 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. {ECO:0000269 PubMed:30970188}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GLS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GLS: view

No data available for Genatlas for GLS Gene

Publications for GLS Gene

  1. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. (PMID: 16899818) Buschdorf JP … Low BC (Journal of cell science 2006) 3 4 23 54
  2. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PMID: 15642443) Zhang B … Shen Y (European psychiatry : the journal of the Association of European Psychiatrists 2005) 3 23 41 54
  3. Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing. (PMID: 11015561) Elgadi KM … Abcouwer SF (Physiological genomics 1999) 3 4 23 54
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  5. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. (PMID: 30239721) Rumping L … van Hasselt PM (Human molecular genetics 2019) 3 4 54

Products for GLS Gene

  • Addgene plasmids for GLS

Sources for GLS Gene