Aliases for GSS Gene
Aliases for GSS Gene
External Ids for GSS Gene
- HGNC: 4624
- Entrez Gene: 2937
- Ensembl: ENSG00000100983
- OMIM: 601002
- UniProtKB: P48637
Previous GeneCards Identifiers for GSS Gene
- GC20M033274
- GC20M034184
- GC20M034232
- GC20M034233
- GC20M032980
- GC20M033517
- GC20M030294
Summaries 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 Glutathione metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and peptide binding.
Additional gene information for GSS Gene
- Monarch Initiative
- Search for GSS at DataMed
- Search for GSS at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSS Gene
Genomics for GSS Gene
GeneHancer (GH) Regulatory Elements for GSS Gene
Promoters and enhancers for GSS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around GSS on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GSS gene promoter:
Regulatory Element Products
Genomic Locations for GSS Gene
Genomic Locations for GSS Gene
- chr20:34,928,430-34,955,992
- (GRCh38/hg38)
- Size:
- 27,563 bases
- Orientation:
- Minus strand
- chr20:33,516,236-33,543,620
- (GRCh37/hg19)
Genomic View for GSS Gene
Genes around GSS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.22 by Ensembl
- 20q11.22 by Entrez Gene
- 20q11.22 by HGNC
GSS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GSS Gene
Proteins for GSS Gene
-
Protein details for GSS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48637-GSHB_HUMAN
- Recommended name:
- Glutathione synthetase
- Protein Accession:
- P48637
- 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.
Protein Expression for GSS Gene
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
Other Protein References for GSS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for GSS
-
Abcam antibodies for GSS
-
Cloud-Clone Corp. Antibodies for GSS
- Invitrogen Antibodies for GSS
- Search GeneTex for Antibodies for GSS
Protein Products
-
OriGene Purified Proteins for GSS
- Search Origene for MassSpec and Protein Over-expression Lysates for GSS
- Origene Custom Protein Services for GSS
- ProSpec Recombinant Proteins for GSS
-
Cloud-Clone Corp. Proteins for GSS
- Search GeneTex for Proteins for GSS
-
ProSci Proteins for GSS
-
Abcam proteins for GSS
Assay Products
-
Cloud-Clone Corp. Assay Kits for GSS
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
Suggested Antigen Peptide Sequences for GSS Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P48637- Family:
-
- Belongs to the eukaryotic GSH synthase family.
Function for GSS Gene
Molecular function for GSS Gene
- GENATLAS Biochemistry:
- glutathione synthetase,52.4kDa
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione.
Enzyme Numbers (IUBMB) for GSS Gene
Phenotypes From GWAS Catalog for GSS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000287 | magnesium ion binding | IDA | 10369661 |
| GO:0004363 | glutathione synthase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 21044950 |
| GO:0005524 | ATP binding | IDA | 10369661 |
| GO:0016594 | glycine binding | IEA | -- |
Phenotypes for GSS Gene
- MGI mutant phenotypes for GSS:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GSS:
Animal Models for GSS Gene
- MGI Knock Outs for GSS:
-
- Gss tm1Wink
Animal Model Products
-
Taconic Biosciences Mouse Models for GSS
- Cyagen custom Knockout/knockin (KOKI) mouse models for GSS
-
-
ViGene Biosciences lentiviral particle packaged cDNA for GSS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GSS gene
- Search ViGene Biosciences for GSS
CRISPR Products
-
OriGene CRISPR knockouts for GSS
- Applied Biological Materials CRISPR for GSS
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GSS
- GenScript: Design CRISPR guide RNA sequences for GSS
miRNA for GSS Gene
- miRTarBase miRNAs that target GSS
-
- hsa-mir-92b-3p (MIRT040592)
- hsa-mir-193b-3p (MIRT041404)
- hsa-mir-331-3p (MIRT043308)
- hsa-mir-125b-5p (MIRT054199)
- hsa-mir-514b-5p (MIRT532572)
- hsa-mir-513c-5p (MIRT532573)
- hsa-mir-7848-3p (MIRT532574)
- hsa-mir-610 (MIRT532575)
- hsa-mir-4319 (MIRT532576)
- hsa-mir-125a-5p (MIRT532577)
- hsa-mir-10b-5p (MIRT532578)
- hsa-mir-10a-5p (MIRT532579)
- hsa-mir-504-5p (MIRT532580)
miRNA Products
- Search ViGene Biosciences for GSS
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for GSS
- Browse OriGene Inhibitory RNA Products For GSS
-
ViGene Biosciences ready-to-package AAV shRNAs for GSS gene
Clone Products
- Sino Biological Human cDNA Clone for GSS
- VectorBuilder custom plasmid, inducible vectors for GSS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GSS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- orf clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- Applied Biological Materials Clones for GSS
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for GSS gene
-
ViGene Biosciences lentiviral particle packaged cDNA for GSS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GSS gene
No data available for Transcription Factor Targets and HOMER Transcription for GSS Gene
Localization for GSS Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| nucleus | 3 |
| mitochondrion | 2 |
| peroxisome | 1 |
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IBA,TAS | -- |
| GO:0070062 | extracellular exosome | IDA,HDA | 19056867 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GSS Gene
Pathways & Interactions for GSS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glutathione metabolism | ||
| 2 | Cytochrome P450 - arranged by substrate type | ||
| 3 | Metabolism |
.37
|
|
| 4 | Sulfur amino acid metabolism | ||
| 5 | Ferroptosis | ||
Pathways by source for GSS Gene
4 BioSystems pathways for GSS Gene
5 Reactome pathways for GSS Gene
4 KEGG pathways for GSS Gene
1 GeneGo (Thomson Reuters) pathway for GSS Gene
UniProtKB/Swiss-Prot P48637-GSHB_HUMAN
- Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.
Interacting Proteins for GSS Gene
Selected Interacting proteins:
ENSP00000216951
P48637-GSHB_HUMAN
for GSS Gene via
STRING
IID
MINT
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for GSS Gene
Drugs & Compounds for GSS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glutathione | Approved, Investigational | Nutra | Target | 0 | ||
| Glycine | Approved, Vet_approved | Nutra | Full agonist, Agonist, Target | 254 | ||
| L-Cysteine | Approved | Nutra | Target | 0 | ||
| Acetylcysteine | Approved, Investigational | Pharma | Target, stimulator | Antioxidant;mucolytic agent | 352 | |
| Copper | Approved, Investigational | Pharma | Target | 202 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 | |||
| Phosphate |
|
14265-44-2 |
|
|||
| Phosphite |
|
14901-63-4 |
|
Transcripts for GSS Gene
mRNA/cDNA for GSS Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (507) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for GSS
- Applied Biological Materials CRISPR for GSS
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GSS
- GenScript: Design CRISPR guide RNA sequences for GSS
miRNA Products
- Search ViGene Biosciences for GSS
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for GSS
- Browse OriGene Inhibitory RNA Products For GSS
-
ViGene Biosciences ready-to-package AAV shRNAs for GSS gene
Clone Products
- Sino Biological Human cDNA Clone for GSS
- VectorBuilder custom plasmid, inducible vectors for GSS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GSS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- orf clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- Applied Biological Materials Clones for GSS
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
Expression for GSS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Kidney (Urinary System)
- Loop of Henle
- Loop of Henle Cells Loop of Henle
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
- Ovary (Reproductive System)
- Pancreas (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Thyroid (Endocrine System)
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GSS Gene
NURSA nuclear receptor signaling pathways regulating expression of GSS Gene:
GSSSOURCE GeneReport for Unigene cluster for GSS Gene:
Hs.82327Evidence on tissue expression from TISSUES for GSS Gene
- Nervous system(4.9)
- Liver(4.7)
- Lung(4.7)
- Kidney(4.6)
- Intestine(4.4)
- Eye(2.7)
- Blood(2.6)
- Skin(2.6)
- Heart(2)
- Stomach(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
Primer Products
-
OriGene qPCR primer pairs for GSS
-
OriGene qPCR primer pairs and template standards for GSS
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PRNP 34 |
|
OneToOne | |
| GSS 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | GSS 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | GSS 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Gss 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gss 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GSS 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GSS 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GSS 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GSS 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gss 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gss 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32495 34 33 |
|
OneToMany | |
| GS 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000534 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | gss-1 33 34 |
|
||
| M176.2 35 |
|
|
|||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F07557g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR284C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GSH2 33 34 36 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | GSH2 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os11g0642800 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU06191 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gsa1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3374 34 |
|
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 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)
Paralogs for GSS Gene
No data available for Paralogs for GSS Gene
Variants for GSS Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121909307 | pathogenic, Gluthathione synthetase deficiency, Glutathione synthetase deficiency | 34,942,488(-) | C/T | coding_sequence_variant, missense_variant | |
| rs121909308 | pathogenic, Gluthathione synthetase deficiency, Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] | 34,935,611(-) | G/A | coding_sequence_variant, missense_variant | |
| rs121909309 | pathogenic, Gluthathione synthetase deficiency, Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] | 34,932,121(-) | G/A | coding_sequence_variant, missense_variant | |
| rs138574949 | uncertain-significance, Glutathione synthetase deficiency | 34,929,499(-) | G/A/C/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs141866304 | uncertain-significance, Glutathione synthetase deficiency | 34,929,544(-) | C/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1055447 | CNV | loss | 25217958 |
| nsv833962 | CNV | loss | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSS Gene
Disorders for GSS Gene
(6) MalaCards diseases for GSS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glutathione synthetase deficiency |
|
|
| glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to |
|
|
| metabolic acidosis |
|
|
| hemolytic anemia |
|
|
| cystinosis |
|
|
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 mutations 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 mutations 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
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for GSS Gene
- 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 58
- Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PMID: 8896573) Shi ZZ … Lieberman MW (Nature genetics 1996) 3 4 22 58
- The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. (PMID: 8825653) Webb GC … Board PG (Genomics 1995) 2 3 22 58
- Sequencing and expression of a cDNA for human glutathione synthetase. (PMID: 7646467) Gali RR … Board PG (The Biochemical journal 1995) 3 4 22 58
- Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y … Huang W (Journal of human genetics 2010) 3 44 58
Products for GSS Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for GSS
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GSS
- Search Origene for MassSpec and Protein Over-expression Lysates for GSS
- Origene Custom Protein Services for GSS
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GSS
- Browse OriGene Inhibitory RNA Products For GSS
- OriGene qPCR primer pairs and template standards for GSS
- OriGene qPCR primer pairs for GSS
- OriGene CRISPR knockouts for GSS
- OriGene ORF clones in human for GSS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GSS
- GenScript: Next-day shipping of latest version cDNA ORF clones for GSS in any vector
- GenScript Custom Purified and Recombinant Proteins Services for GSS
- GenScript Custom Assay Services for GSS
- GenScript Custom overexpressing Cell Line Services for GSS
- GenScript: Design CRISPR guide RNA sequences for GSS
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for GSS
- Sino Biological Human cDNA Clone for GSS
- Browse Sino Biological Cell Lysates
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- Browse Sino Biological ELISA Kits
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- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for GSS
- Novus Biologicals lysates and proteins for GSS
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GSS
- Abcam proteins for GSS
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for GSS
- Cloud-Clone Corp. Antibodies for GSS
- Cloud-Clone Corp. Proteins for GSS
- Cloud-Clone Corp. Assay Kits for GSS
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for GSS
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for GSS
- Cyagen custom Knockout/knockin (KOKI) mouse models for GSS
- VectorBuilder custom plasmid, inducible vectors for GSS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GSS
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 98 available Glutathione Synthetase Antibodies ranked by validation data
- Compare Top Glutathione Synthetase Antibodies
- antibodies-online: Search results for 19 available Glutathione Synthetase Elisa Kits ranked by validation data
- Compare Top Glutathione Synthetase Elisa Kits
- Quality Products:
- antibodies-online: Search results for 24 available Glutathione Synthetase Proteins ranked by validation data
- Compare Top Glutathione Synthetase Proteins
- Search GeneTex for Antibodies for GSS
- Search GeneTex for Proteins for GSS
- ViGene Biosciences adenoviral particle packaged cDNA for GSS gene
- ViGene Biosciences lentiviral particle packaged cDNA for GSS gene
- ViGene Biosciences ready-to-package AAV shRNAs for GSS gene
- Search ViGene Biosciences for GSS
- Search Santa Cruz Biotechnology (SCBT) for GSS siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GSS
- Search for GSS Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for GSS
- genomics-online: cdna clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- orf clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- genomics-online: gRNA clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- genomics-online: primer clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
- genomics-online: shRNA clones - Search results for 124 available Glutathione Synthetase gene related products
- Overview of 124 available Glutathione Synthetase gene related products
Sources for GSS Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems