Details for: G6PD

Gene ID: 2539

Symbol: G6PD

Ensembl ID: ENSG00000160211

Description: glucose-6-phosphate dehydrogenase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 115.6577
    Cell Significance Index: -17.9900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 62.7259
    Cell Significance Index: -15.9100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 45.9561
    Cell Significance Index: -18.6700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 45.7508
    Cell Significance Index: -21.6000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 40.6505
    Cell Significance Index: -20.9100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.9216
    Cell Significance Index: -19.0200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.5943
    Cell Significance Index: -20.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.7139
    Cell Significance Index: -17.5500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.5303
    Cell Significance Index: -14.8200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.3497
    Cell Significance Index: -21.1100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.1581
    Cell Significance Index: 30.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.4520
    Cell Significance Index: 19.8100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.2206
    Cell Significance Index: 22.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.1145
    Cell Significance Index: 77.0800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.9717
    Cell Significance Index: 33.7700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8427
    Cell Significance Index: 760.9200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7857
    Cell Significance Index: 23.0800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6696
    Cell Significance Index: 42.2000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.6250
    Cell Significance Index: 5.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6092
    Cell Significance Index: 66.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6058
    Cell Significance Index: 15.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5827
    Cell Significance Index: 94.7700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5525
    Cell Significance Index: 33.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5246
    Cell Significance Index: 33.8500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3187
    Cell Significance Index: 57.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3148
    Cell Significance Index: 38.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3128
    Cell Significance Index: 42.9600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2965
    Cell Significance Index: 161.9000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2877
    Cell Significance Index: 8.0400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2664
    Cell Significance Index: 13.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2559
    Cell Significance Index: 3.0500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2356
    Cell Significance Index: 27.7900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2193
    Cell Significance Index: 4.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1942
    Cell Significance Index: 9.1300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1497
    Cell Significance Index: 6.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1463
    Cell Significance Index: 3.1700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1342
    Cell Significance Index: 17.2000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1326
    Cell Significance Index: 3.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1291
    Cell Significance Index: 57.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0975
    Cell Significance Index: 19.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0947
    Cell Significance Index: 10.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0946
    Cell Significance Index: 18.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0855
    Cell Significance Index: 2.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0807
    Cell Significance Index: 3.6600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0712
    Cell Significance Index: 7.0400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0630
    Cell Significance Index: 4.7000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0630
    Cell Significance Index: 11.9800
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 0.0523
    Cell Significance Index: 0.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0508
    Cell Significance Index: 1.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0361
    Cell Significance Index: 2.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0246
    Cell Significance Index: 4.2000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0145
    Cell Significance Index: 1.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0083
    Cell Significance Index: 0.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0057
    Cell Significance Index: 8.8500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0025
    Cell Significance Index: 1.9000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0013
    Cell Significance Index: 0.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0003
    Cell Significance Index: 0.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0028
    Cell Significance Index: -0.9900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0033
    Cell Significance Index: -6.1200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0043
    Cell Significance Index: -2.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0047
    Cell Significance Index: -3.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0066
    Cell Significance Index: -12.4700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0074
    Cell Significance Index: -0.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0146
    Cell Significance Index: -0.3900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0148
    Cell Significance Index: -8.3500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0154
    Cell Significance Index: -11.2900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0188
    Cell Significance Index: -12.9900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0204
    Cell Significance Index: -1.0700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0207
    Cell Significance Index: -13.1200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0421
    Cell Significance Index: -1.3500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0445
    Cell Significance Index: -0.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0447
    Cell Significance Index: -20.3100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0492
    Cell Significance Index: -10.3700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0655
    Cell Significance Index: -1.9300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0700
    Cell Significance Index: -1.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0743
    Cell Significance Index: -21.3700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0931
    Cell Significance Index: -0.8000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0937
    Cell Significance Index: -2.4000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0949
    Cell Significance Index: -11.0600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1046
    Cell Significance Index: -1.7500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1082
    Cell Significance Index: -5.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1086
    Cell Significance Index: -15.7800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1118
    Cell Significance Index: -1.2700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1147
    Cell Significance Index: -13.0900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1629
    Cell Significance Index: -2.7400
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.1632
    Cell Significance Index: -1.3500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1854
    Cell Significance Index: -4.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2002
    Cell Significance Index: -20.8500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2327
    Cell Significance Index: -2.5300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2340
    Cell Significance Index: -18.5300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2451
    Cell Significance Index: -18.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2515
    Cell Significance Index: -15.4200
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.2536
    Cell Significance Index: -1.9200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2609
    Cell Significance Index: -17.5400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2785
    Cell Significance Index: -17.1200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3093
    Cell Significance Index: -17.3600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.3573
    Cell Significance Index: -3.4000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3896
    Cell Significance Index: -6.4200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3901
    Cell Significance Index: -3.5900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.4334
    Cell Significance Index: -3.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Location:** G6PD is primarily found in the cytosol of cells, particularly in red blood cells, where it plays a crucial role in maintaining the redox balance. 2. **Function:** G6PD catalyzes the conversion of glucose-6-phosphate into 6-phosphogluconate, producing NADPH in the process. 3. **Substrate:** Glucose-6-phosphate 4. **Product:** 6-Phosphogluconate and NADPH 5. **Regulation:** G6PD is regulated by various factors, including NADP+, ATP, and calcium ions. **Pathways and Functions:** 1. **Pentose Phosphate Pathway (PPP):** G6PD is a key enzyme in the PPP, which generates NADPH and pentoses from glucose-6-phosphate. 2. **Antioxidant Defense:** G6PD produces NADPH, which is essential for maintaining the redox balance and protecting cells against oxidative stress. 3. **Immune Response:** G6PD is involved in the regulation of immune responses, particularly in the activation of neutrophils and macrophages. 4. **Red Blood Cell Function:** G6PD is essential for maintaining the redox balance in red blood cells, which is critical for preventing oxidative damage. 5. **Glucose Metabolism:** G6PD plays a role in glucose metabolism, particularly in the regulation of glycolysis and gluconeogenesis. **Clinical Significance:** 1. **G6PD Deficiency:** Deficiency of G6PD is a genetic disorder that affects approximately 400 million people worldwide, leading to hemolytic anemia, jaundice, and increased susceptibility to infections. 2. **Pregnancy Complications:** G6PD deficiency is associated with increased risk of pregnancy complications, including preterm birth and low birth weight. 3. **Cancer:** G6PD has been implicated in cancer development and progression, particularly in the regulation of glucose metabolism and antioxidant defenses. 4. **Neurological Disorders:** G6PD has been linked to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis. In conclusion, G6PD is a vital enzyme in the pentose phosphate pathway, playing a crucial role in maintaining the redox balance, regulating immune responses, and participating in glucose metabolism. Its deficiency has significant clinical implications, including hemolytic anemia, pregnancy complications, and increased susceptibility to infections.

Genular Protein ID: 923574596

Symbol: G6PD_HUMAN

Name: Glucose-6-phosphate 1-dehydrogenase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3515319

Title: Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.

PubMed ID: 3515319

DOI: 10.1093/nar/14.6.2511

PubMed ID: 2428611

Title: Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.

PubMed ID: 2428611

DOI: 10.1002/j.1460-2075.1986.tb04436.x

PubMed ID: 2836867

Title: Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).

PubMed ID: 2836867

DOI: 10.1073/pnas.85.11.3951

PubMed ID: 1889820

Title: Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome.

PubMed ID: 1889820

DOI: 10.1016/0888-7543(91)90465-q

PubMed ID: 8733135

Title: Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.

PubMed ID: 8733135

DOI: 10.1093/hmg/5.5.659

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2758468

Title: Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase.

PubMed ID: 2758468

DOI: 10.1016/0092-8674(89)90440-6

PubMed ID: 8466644

Title: 5' structure and expression of human glucose-6-phosphate dehydrogenase mRNA.

PubMed ID: 8466644

DOI: 10.1089/dna.1993.12.209

PubMed ID: 1874446

Title: The CpG island in the 5' region of the G6PD gene of man and mouse.

PubMed ID: 1874446

DOI: 10.1016/0378-1119(91)90078-p

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 1945893

Title: A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.

PubMed ID: 1945893

DOI: 10.1093/nar/19.21.6056

PubMed ID: 12524354

Title: Nucleotide variability at G6pd and the signature of malarial selection in humans.

PubMed ID: 12524354

DOI: 10.1093/genetics/162.4.1849

PubMed ID: 3012556

Title: Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning.

PubMed ID: 3012556

DOI: 10.1073/pnas.83.12.4157

PubMed ID: 3126064

Title: Human erythrocyte glucose-6-phosphate dehydrogenase. Identification of a reactive lysyl residue labelled with pyridoxal 5'-phosphate.

PubMed ID: 3126064

DOI: 10.1111/j.1432-1033.1988.tb13815.x

PubMed ID: 6696761

Title: Amino acid sequence of the carboxy-terminal end of human erythrocyte glucose-6-phosphate dehydrogenase.

PubMed ID: 6696761

DOI: 10.1016/0006-291x(84)91105-7

PubMed ID: 743300

Title: Glucose 6-phosphate dehydrogenase activity in membranes of erythrocytes from normal individuals and subjects with Mediterranean G6PD deficiency.

PubMed ID: 743300

DOI: 10.1016/0006-291x(78)91147-6

PubMed ID: 2910917

Title: Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues.

PubMed ID: 2910917

DOI: 10.1172/jci113881

PubMed ID: 7857286

Title: Glucose 6-phosphate dehydrogenase from human erythrocytes: identification of N-acetyl-alanine at the N-terminus of the mature protein.

PubMed ID: 7857286

DOI: 10.1006/bbrc.1995.1192

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22431005

Title: Glucose-6-phosphate dehydrogenase, NADPH, and cell survival.

PubMed ID: 22431005

DOI: 10.1002/iub.1017

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24769394

Title: Regulation of G6PD acetylation by KAT9/SIRT2 modulates NADPH homeostasis and cell survival during oxidative stress.

PubMed ID: 24769394

DOI: 10.1002/embj.201387224

PubMed ID: 29192674

Title: Landscape of the regulatory elements for lysine 2-hydroxyisobutyrylation pathway.

PubMed ID: 29192674

DOI: 10.1038/cr.2017.149

PubMed ID: 35122041

Title: Aldolase B suppresses hepatocellular carcinogenesis by inhibiting G6PD and pentose phosphate pathways.

PubMed ID: 35122041

DOI: 10.1038/s43018-020-0086-7

PubMed ID: 10745013

Title: Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.

PubMed ID: 10745013

DOI: 10.1016/s0969-2126(00)00104-0

PubMed ID: 8364584

Title: Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.

PubMed ID: 8364584

DOI: 10.1002/humu.1380020302

PubMed ID: 11857737

Title: G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.

PubMed ID: 11857737

DOI: 10.1002/humu.10036

PubMed ID: 15858258

Title: Structural studies of glucose-6-phosphate and NADP+ binding to human glucose-6-phosphate dehydrogenase.

PubMed ID: 15858258

DOI: 10.1107/s0907444905002350

PubMed ID: 3446582

Title: A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).

PubMed ID: 3446582

DOI: 10.1016/0888-7543(87)90048-6

PubMed ID: 3393536

Title: Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

PubMed ID: 3393536

DOI: 10.1073/pnas.85.14.5171

PubMed ID: 2912069

Title: Two point mutations are responsible for G6PD polymorphism in Sardinia.

PubMed ID: 2912069

PubMed ID: 1611091

Title: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.

PubMed ID: 1611091

PubMed ID: 1536798

Title: Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393arg-to-his) with abnormal K(m) G6P and marked in vivo instability.

PubMed ID: 1536798

DOI: 10.1111/j.1365-2141.1992.tb06409.x

PubMed ID: 1303180

Title: A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese.

PubMed ID: 1303180

DOI: 10.1093/hmg/1.3.205

PubMed ID: 1303182

Title: G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation.

PubMed ID: 1303182

DOI: 10.1093/hmg/1.3.209

PubMed ID: 8490627

Title: G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.

PubMed ID: 8490627

DOI: 10.1093/hmg/2.1.81

PubMed ID: 8193373

Title: Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis.

PubMed ID: 8193373

PubMed ID: 7959695

Title: A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia.

PubMed ID: 7959695

DOI: 10.1007/bf00211027

PubMed ID: 7825590

Title: Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

PubMed ID: 7825590

PubMed ID: 8533762

Title: A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.

PubMed ID: 8533762

PubMed ID: 7858267

Title: New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

PubMed ID: 7858267

PubMed ID: 9452072

Title: G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).

PubMed ID: 9452072

DOI: 10.1002/humu.1380110151

PubMed ID: 10627140

Title: A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G->T).

PubMed ID: 10627140

PubMed ID: 11112389

Title: A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD 'Rehovot') in a Jewish Ethiopian family with variable phenotypes.

PubMed ID: 11112389

DOI: 10.1006/bcmd.2000.0334

PubMed ID: 18043863

Title: A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India.

PubMed ID: 18043863

DOI: 10.1007/s10038-007-0225-3

PubMed ID: 20007901

Title: Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.

PubMed ID: 20007901

DOI: 10.1126/science.1178849

PubMed ID: 26479991

Title: Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent.

PubMed ID: 26479991

DOI: 10.1097/mph.0000000000000435

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

PubMed ID: 29333274

Title: Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.

PubMed ID: 29333274

DOI: 10.1038/hgv.2017.57

PubMed ID: 30988594

Title: A novel G6PD p.Gly321Val mutation causing severe hemolysis in an Indian infant.

PubMed ID: 30988594

DOI: 10.1007/s12288-018-1049-3

PubMed ID: 38066190

Title: Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.

PubMed ID: 38066190

DOI: 10.1038/s42003-023-05599-z

Sequence Information:

  • Length: 515
  • Mass: 59257
  • Checksum: F2B775340640A96F
  • Sequence:
  • MAEQVALSRT QVCGILREEL FQGDAFHQSD THIFIIMGAS GDLAKKKIYP TIWWLFRDGL 
    LPENTFIVGY ARSRLTVADI RKQSEPFFKA TPEEKLKLED FFARNSYVAG QYDDAASYQR 
    LNSHMNALHL GSQANRLFYL ALPPTVYEAV TKNIHESCMS QIGWNRIIVE KPFGRDLQSS 
    DRLSNHISSL FREDQIYRID HYLGKEMVQN LMVLRFANRI FGPIWNRDNI ACVILTFKEP 
    FGTEGRGGYF DEFGIIRDVM QNHLLQMLCL VAMEKPASTN SDDVRDEKVK VLKCISEVQA 
    NNVVLGQYVG NPDGEGEATK GYLDDPTVPR GSTTATFAAV VLYVENERWD GVPFILRCGK 
    ALNERKAEVR LQFHDVAGDI FHQQCKRNEL VIRVQPNEAV YTKMMTKKPG MFFNPEESEL 
    DLTYGNRYKN VKLPDAYERL ILDVFCGSQM HFVRSDELRE AWRIFTPLLH QIELEKPKPI 
    PYIYGSRGPT EADELMKRVG FQYEGTYKWV NPHKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.