GSS Gene (Protein Coding)

Glutathione Synthetase

GC20M034928
GIFtS:
47
Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glut... See more...

Aliases for GSS Gene

Aliases for GSS Gene

  • Glutathione Synthetase 2 3 4 5
  • Glutathione Synthase 3 4
  • GSH Synthetase 3 4
  • EC 6.3.2.3 4 50
  • GSH-S 3 4
  • HEL-S-64p 3
  • HEL-S-88n 3
  • GSHS 3
  • GSS 5

External Ids for GSS Gene

Previous GeneCards Identifiers for GSS Gene

  • GC20M033274
  • GC20M034184
  • GC20M034232
  • GC20M034233
  • GC20M032980
  • GC20M033517
  • GC20M030294

Summaries for GSS Gene

Entrez Gene Summary for GSS Gene

  • Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for GSS Gene

GSS (Glutathione Synthetase) is a Protein Coding gene. Diseases associated with GSS include Glutathione Synthetase Deficiency and Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To. Among its related pathways are Cytochrome P450 - arranged by substrate type and Glutathione metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and peptide binding.

Additional gene information for GSS Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSS Gene

Genomics for GSS Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GSS Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J034954 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.1 82 2.7 ZNF207 MYC IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 KLF9 CEBPA POLR2A MYH7B GSS lnc-MYH7B-3 RBM12 CPNE1 RPL36P4 ERGIC3 NCOA6 TRPC4AP ENSG00000272945
GH20J034921 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.5 +33.5 33526 2.6 JUND CEBPA ATF3 YY1 CEBPB DEK HOMEZ MAX EP300 FOXA2 HSALNG0129740 PIGU GSS MIR499A EDEM2 MMP24OS NCOA6 MYH7B GGT7 ACSS2
GH20J034925 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.8 +28.7 28697 3.1 TCF7L2 RBM22 POLR2A SUPT5H SCRT2 PIGU GSS MIR499A NCOA6 MMP24 PROCR HSALNG0129740 MYH7B GGT7 ACSS2
GH20J034008 Enhancer 1.3 Ensembl ENCODE dbSUPER 5.6 +937.3 937326 23.8 ZNF654 ZNF600 NCOR1 SSRP1 JUND ATF2 CEBPA NFIC CHD4 CEBPB ENSG00000228386 L13714-283 NCOA6 CDK5RAP1 CBFA2T2 ZNF341-AS1 RALY ENSG00000272945 MAP1LC3A AHCY
GH20J034922 Enhancer 0.5 Ensembl dbSUPER 11.5 +35.4 35426 0.4 EGR2 ZFHX2 HSALNG0129740 PIGU GSS MIR499A EDEM2 MMP24OS piR-59804-013 MYH7B ACSS2 GGT7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSS on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the GSS gene promoter:
  • AML1a
  • Arnt
  • HNF-4alpha1
  • Ik-3
  • PPAR-alpha
  • STAT3
  • USF-1

Genomic Locations for GSS Gene

Latest Assembly
chr20:34,928,432-34,956,027
(GRCh38/hg38)
Size:
27,596 bases
Orientation:
Minus strand

Previous Assembly
chr20:33,516,235-33,543,830
(GRCh37/hg19 by Entrez Gene)
Size:
27,596 bases
Orientation:
Minus strand

chr20:33,516,236-33,543,620
(GRCh37/hg19 by Ensembl)
Size:
27,385 bases
Orientation:
Minus strand

Genomic View for GSS Gene

Genes around GSS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GSS Gene

Proteins for GSS Gene

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

    Protein Symbol:
    P48637-GSHB_HUMAN
    Recommended name:
    Glutathione synthetase
    Protein Accession:
    P48637
    Secondary Accessions:
    • B2R697
    • B6F210
    • E1P5P9
    • Q4TTD9

    Protein attributes for GSS Gene

    Size:
    474 amino acids
    Molecular mass:
    52385 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • [Isoform 2]: Detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen.

    Three dimensional structures from OCA and Proteopedia for GSS Gene

    Alternative splice isoforms for GSS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSS Gene

Protein Expression for GSS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for GSS Gene

P48637:
  • LPGQPEAVARLRATFAGLYSLD
  • ALKQIEINT
  • KILSNNPSKGLA
  • DGGVAAGVAVLDNPY
  • KPQREGGGNN
  • QCISELGIFGVYVR
  • TLVMNKHVGHLLRTKA
  • AVVYFRDGYMP
  • VLLIAQEKERNIFDQRA
  • NCLLRPGSPA
  • DRALAEGVLLR
  • ASFGGLASRTPAVH

Post-translational modifications for GSS Gene

  • Ubiquitination at Lys12, Lys112, and Lys400
  • Modification sites at PhosphoSitePlus

Other Protein References for GSS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GSS Gene

Gene Families for GSS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GSS Gene

InterPro:
Blocks:
  • Eukaryotic glutathione synthase

Suggested Antigen Peptide Sequences for GSS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50601, highly similar to Glutathione synthetase (EC 6.3.2.3) (B7Z514_HUMAN)
  • Glutathione synthase (GSHB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48637

UniProtKB/Swiss-Prot:

GSHB_HUMAN :
  • Belongs to the eukaryotic GSH synthase family.
Family:
  • Belongs to the eukaryotic GSH synthase family.
genes like me logo Genes that share domains with GSS: view

Function for GSS Gene

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  6. Cell Lines for research

Molecular function for GSS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycine + L-gamma-glutamyl-L-cysteine = ADP + glutathione + H(+) + phosphate; Xref=Rhea:RHEA:13557, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57305, ChEBI:CHEBI:57925, ChEBI:CHEBI:58173, ChEBI:CHEBI:456216; EC=6.3.2.3;.
GENATLAS Biochemistry:
glutathione synthetase,52.4kDa

Enzyme Numbers (IUBMB) for GSS Gene

Phenotypes From GWAS Catalog for GSS Gene

Gene Ontology (GO) - Molecular Function for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 10369661
GO:0004363 glutathione synthase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IDA 10369661
genes like me logo Genes that share ontologies with GSS: view
genes like me logo Genes that share phenotypes with GSS: view

Human Phenotype Ontology for GSS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GSS Gene

MGI Knock Outs for GSS:
  • Gss Gss<tm1Wink>

Animal Models for research

  • Taconic Biosciences Mouse Models for GSS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSS

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

Localization for GSS Gene

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 GSS gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 3
plasma membrane 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GSS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GSS Gene

Pathways & Interactions for GSS Gene

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

UniProtKB/Swiss-Prot P48637-GSHB_HUMAN

  • Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.

Gene Ontology (GO) - Biological Process for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 8896573
GO:0006750 glutathione biosynthetic process TAS --
GO:0006979 response to oxidative stress TAS 465367
GO:0007399 nervous system development TAS 8896573
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with GSS: view

No data available for SIGNOR curated interactions for GSS Gene

Drugs & Compounds for GSS Gene

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(21) Drugs for GSS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteine Approved Nutra Target 278
Glutathione Approved, Investigational Nutra Target 0
Glycine Approved, Vet_approved Nutra Target, substrate 203
Acetylcysteine Approved, Investigational Pharma Target, stimulator Antioxidant;mucolytic agent 464
Copper Approved, Investigational Pharma Target 276

(19) Additional Compounds for GSS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
Phosphite
  • [p(OH)3]
  • H3PO3
  • p(OH)3
  • Phosphorige saeure
  • Phosphorus trihydroxide
 14901-63-4
genes like me logo Genes that share compounds with GSS: view

Transcripts for GSS Gene

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mRNA/cDNA for GSS Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSS

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - - - - - -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11:

ExUns: 13b · 13c ^ 14 ^ 15a · 15b · 15c
SP1: - -
SP2:
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for GSS Gene

GeneLoc Exon Structure for
GSS

Expression for GSS Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSS Gene

mRNA expression in normal human tissues for GSS Gene
mRNA expression by GTEx for GSS GenemRNA expression by BioGPS for GSS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Protein tissue co-expression partners for GSS Gene

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

SOURCE GeneReport for Unigene cluster for GSS Gene:

Hs.82327

Evidence on tissue expression from TISSUES for GSS Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Liver(4.6)
  • Kidney(4.5)
  • Intestine(4.2)
  • Skin(2.6)
  • Eye(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GSS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Abdomen:
  • kidney
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • red blood cell
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GSS: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GSS Gene

Orthologs for GSS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GSS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PRNP 30
  • 100 (a)
 OneToOne
GSS 29
  • 99.65 (n)
Dog
(Canis familiaris)
 Mammalia GSS 29 30
  • 92.19 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GSS 29 30
  • 90.08 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gss 29 16 30
  • 88.33 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gss 29
  • 87.9 (n)
Oppossum
(Monodelphis domestica)
 Mammalia GSS 30
  • 83 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GSS 30
  • 59 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GSS 29 30
  • 70.32 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GSS 30
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gss 29
  • 65.33 (n)
Zebrafish
(Danio rerio)
 Actinopterygii gss 29 30
  • 62.77 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta GS 29 30
  • 53.38 (n)
 OneToMany
CG32495 30
  • 35 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000534 29
  • 53.33 (n)
Worm
(Caenorhabditis elegans)
 Secernentea gss-1 29 30
  • 47.2 (n)
 OneToOne
M176.2 31
  • 39 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F07557g 29
  • 46.84 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACR284C 29
  • 46.49 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GSH2 29 30
  • 45.42 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons GSH2 29
  • 50.44 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0642800 29
  • 50.04 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06191 29
  • 50.36 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes gsa1 29
  • 46.38 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3374 30
  • 43 (a)
 OneToOne
Species where no ortholog for GSS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GSS Gene

ENSEMBL:
Gene Tree for GSS (if available)
TreeFam:
Gene Tree for GSS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSS: view image
Alliance of Genome Resources:
Additional Orthologs for GSS

Paralogs for GSS Gene

No data available for Paralogs for GSS Gene

Variants for GSS Gene

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

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1004243 Uncertain Significance: Gluthathione synthetase deficiency 34,928,942(-) C/G
NM_000178.4(GSS):c.1311G>C (p.Lys437Asn) 		MISSENSE
1017256 Uncertain Significance: Gluthathione synthetase deficiency 34,935,584(-) T/C
NM_000178.4(GSS):c.826A>G (p.Ser276Gly) 		MISSENSE
1018066 Uncertain Significance: Gluthathione synthetase deficiency 34,942,624(-) C/T
NM_000178.4(GSS):c.355G>A (p.Val119Met) 		MISSENSE
1027232 Uncertain Significance: Gluthathione synthetase deficiency 34,928,942(-) CTT/C
NM_000178.4(GSS):c.1309_1310del (p.Lys437fs) 		FRAMESHIFT
1029695 Pathogenic: Gluthathione synthetase deficiency 34,929,475(-) G/T
NM_000178.4(GSS):c.1227C>A (p.Cys409Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GSS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1055447 CNV loss 25217958
nsv833962 CNV loss 17160897

Variation tolerance for GSS Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSS Gene

Human Gene Mutation Database (HGMD)
GSS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSS
Leiden Open Variation Database (LOVD)
GSS

SNP Genotyping and Copy Number Assays for research

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

Disorders for GSS Gene

MalaCards: The human disease database

(7) MalaCards diseases for GSS Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GSS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GSHB_HUMAN
  • Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. {ECO:0000269 PubMed:27581854, ECO:0000269 PubMed:8896573, ECO:0000269 PubMed:9215686}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Glutathione synthetase deficiency of erythrocytes (GLUSYNDE) [MIM:231900]: Mild form causing hemolytic anemia. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for GSS Gene

pyroglutamicaciduria,including a severe form characterized by acute metabolic acidosis from the neonatal period,hemolytic anemia progressive encephalopathy and 5-oxyprolinuria. A milder form is restricted to erythrocyctes

Additional Disease Information for GSS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GSS: view

Publications for GSS Gene

  1. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PMID: 8896573) Shi ZZ … Lieberman MW (Nature genetics 1996) 3 4 22 72
  2. Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione? (PMID: 12638941) Ristoff E … Larsson A (Journal of inherited metabolic disease 2002) 3 22 72
  3. Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. (PMID: 11167850) Corrons JL … Beutler E (British journal of haematology 2001) 3 22 72
  4. Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. (PMID: 10369661) Polekhina G … Parker MW (The EMBO journal 1999) 3 4 22
  5. Sequencing and expression of a cDNA for human glutathione synthetase. (PMID: 7646467) Gali RR … Board PG (The Biochemical journal 1995) 3 4 22

ExternalLinks

View latest publications for GSS gene in Mastermind

Products for GSS Gene

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