Details for: G6PD

Gene ID: 2539

Symbol: G6PD

Ensembl ID: ENSG00000160211

Description: glucose-6-phosphate dehydrogenase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.78
    Marker Score: 16481
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.51
    Marker Score: 1771
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.96
    Marker Score: 1753
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.87
    Marker Score: 1132
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.86
    Marker Score: 7728
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.64
    Marker Score: 4082
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.63
    Marker Score: 18901
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.61
    Marker Score: 90210
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.6
    Marker Score: 4424
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.51
    Marker Score: 374
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.41
    Marker Score: 1501
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.38
    Marker Score: 1104
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.37
    Marker Score: 2867
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.35
    Marker Score: 4982
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.32
    Marker Score: 11358
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.29
    Marker Score: 2522
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.28
    Marker Score: 32815
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 1.19
    Marker Score: 3486
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.18
    Marker Score: 9177.5
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.15
    Marker Score: 4722
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.15
    Marker Score: 11567
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 1.13
    Marker Score: 1094
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.11
    Marker Score: 1601
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.1
    Marker Score: 920.5
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.1
    Marker Score: 797
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.09
    Marker Score: 1171
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.08
    Marker Score: 1352
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.06
    Marker Score: 559
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.04
    Marker Score: 1049
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.04
    Marker Score: 881
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.01
    Marker Score: 671
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1
    Marker Score: 6410
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1
    Marker Score: 3157
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1
    Marker Score: 668
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71694
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47918
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 0.99
    Marker Score: 252
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30393
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.98
    Marker Score: 1437
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.98
    Marker Score: 286
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.97
    Marker Score: 1216
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.96
    Marker Score: 698
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.95
    Marker Score: 1264
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.95
    Marker Score: 332
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2395
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.94
    Marker Score: 771
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.94
    Marker Score: 1328
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 478
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 0.92
    Marker Score: 304
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.92
    Marker Score: 967
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.92
    Marker Score: 295
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.92
    Marker Score: 396
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.91
    Marker Score: 958
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.91
    Marker Score: 380
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.91
    Marker Score: 500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2698
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.9
    Marker Score: 951
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.89
    Marker Score: 257
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.89
    Marker Score: 383
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.89
    Marker Score: 306
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.88
    Marker Score: 13699
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5232
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.85
    Marker Score: 574
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4787
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.84
    Marker Score: 2281
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.83
    Marker Score: 1617
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.81
    Marker Score: 830
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.81
    Marker Score: 401
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.81
    Marker Score: 338
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.81
    Marker Score: 241.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.81
    Marker Score: 3493
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.8
    Marker Score: 3156
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.79
    Marker Score: 4796.5
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.79
    Marker Score: 479
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.79
    Marker Score: 816
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 314
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.77
    Marker Score: 1351
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.77
    Marker Score: 487
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.76
    Marker Score: 2176
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.76
    Marker Score: 416
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.75
    Marker Score: 7642
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 576
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.75
    Marker Score: 430
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.75
    Marker Score: 5562
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.74
    Marker Score: 239
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.74
    Marker Score: 495
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.74
    Marker Score: 183
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.74
    Marker Score: 263
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.74
    Marker Score: 2011.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.74
    Marker Score: 419
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.74
    Marker Score: 355
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.73
    Marker Score: 1168
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.73
    Marker Score: 168
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.72
    Marker Score: 338
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.72
    Marker Score: 1065
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.72
    Marker Score: 4695

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Other Information

## Summary G6PD is a crucial enzyme involved in the metabolism of glucose and other sugars. It catalyzes the conversion of glucose-6-phosphate (G6P) to 6-phosphogluconate, a key intermediate in various cellular processes. This enzyme plays a significant role in maintaining cellular energy homeostasis and participating in immune responses. ## Key characteristics * G6PD is a multi-functional protein with three main domains: the catalytic domain, a regulatory domain, and a transmembrane domain. * It is highly expressed in various cell types, including Sertoli cells, monocytes, and immune cells. * G6PD activity is regulated by various factors, including glucose availability, hormones, and cellular signals. ## Pathways and functions * G6PD is involved in multiple metabolic pathways, including: * The pentose phosphate pathway, which is involved in the synthesis of nucleotides and nucleic acids. * The glycolytic pathway, which produces ATP through the breakdown of glucose. * The Krebs cycle, which is responsible for the citric acid cycle and the production of energy molecules. * The Warburg effect, a metabolic state in which cells rely heavily on glycolysis to sustain energy production. * G6PD also plays a role in immune responses, where it can be found in myeloid and lymphoid cells. * It is involved in the regulation of inflammation and immune responses by interacting with various signaling pathways. ## Clinical significance * G6PD deficiency has been linked to several human diseases, including glucose-6-phosphate dehydrogenase deficiency, an inherited disorder characterized by low G6PD activity. * This deficiency can cause a range of clinical symptoms, including fatigue, muscle weakness, and impaired wound healing. * G6PD deficiency can be detected through blood tests and is managed by providing patients with glucose and other dietary support. In summary, G6PD is an essential enzyme involved in various cellular processes, including energy metabolism, immune responses, and cancer development. Its clinical significance underscores the importance of maintaining optimal G6PD activity for overall health and well-being.

Genular Protein ID: 923574596

Symbol: G6PD_HUMAN

Name: Glucose-6-phosphate 1-dehydrogenase

UniProtKB Accession Codes:

P11413 D3DWX9 Q16000 Q16765 Q8IU70 Q8IU88 Q8IUA6 Q96PQ2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CPTAC 3 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 1 EMBL 74 EMDB 8 EPD 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 35 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 33 PDBsum 24 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 2 SABIO-RK 1 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SWISS-2DPAGE 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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. For the full schema, download it here.