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Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042351 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_001042351.1, 108773792
Length 2270 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.
Product glucose-6-phosphate 1-dehydrogenase isoform b
Comment

Summary: This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

RefSeq NP_001035810.1
CDS 114..1661
Misc Feature(1)117..119
Misc Feature(2)117..119
Misc Feature(3)201..1631
Misc Feature(4)216..743
Misc Feature(5)378..380
Misc Feature(6)624..626
Misc Feature(7)747..1631
Misc Feature(8)1314..1316
Misc Feature(9)1314..1316
Misc Feature(10)1320..1322
Misc Feature(11)1407..1409
Misc Feature(12)1602..1604
Misc Feature(13)1620..1622
Misc Feature(14)1632..1634
Exon (1)1..105
Gene:G6PD
Gene Synonym:G6PD1
Exon (2)106..233
Gene:G6PD
Gene Synonym:G6PD1
Exon (3)234..271
Gene:G6PD
Gene Synonym:G6PD1
Exon (4)272..380
Gene:G6PD
Gene Synonym:G6PD1
Exon (5)381..598
Gene:G6PD
Gene Synonym:G6PD1
Exon (6)599..757
Gene:G6PD
Gene Synonym:G6PD1
Exon (7)758..883
Gene:G6PD
Gene Synonym:G6PD1
Exon (8)884..977
Gene:G6PD
Gene Synonym:G6PD1
Exon (9)978..1164
Gene:G6PD
Gene Synonym:G6PD1
Exon (10)1165..1400
Gene:G6PD
Gene Synonym:G6PD1
Exon (11)1401..1477
Gene:G6PD
Gene Synonym:G6PD1
Exon (12)1478..1570
Gene:G6PD
Gene Synonym:G6PD1
Exon (13)1571..2270
Gene:G6PD
Gene Synonym:G6PD1
Translation MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGL LPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQR LNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSS DRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGK ALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESEL DLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL
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Position Chain Variation Link
complement(3)-dbSNP:
complement(3)-t, cdbSNP:111827785
complement(134)-g, cdbSNP:150757632
complement(146)-g, cdbSNP:1050827
complement(208)-g, adbSNP:137852340
complement(216..218)-, atcdbSNP:137852338
complement(244)-dbSNP:
complement(244)-g, cdbSNP:78478128
complement(256)-t, cdbSNP:76645461
complement(285)-dbSNP:
complement(285)-g, adbSNP:137852315
complement(287)-t, cdbSNP:77362384
complement(306)-g, adbSNP:199474830
complement(315)-g, adbSNP:1050828
complement(317)-g, adbSNP:78351852
complement(321)-t, cdbSNP:137852349
complement(323)-t, cdbSNP:79171965
complement(342)-t, gdbSNP:11555344
complement(354)-g, adbSNP:138687036
complement(356)-g, adbSNP:77548451
complement(357)-t, gdbSNP:147108248
complement(364)-t, cdbSNP:141830127
complement(424)-dbSNP:
complement(424)-t, cdbSNP:181277621
430+c, gdbSNP:267606835
complement(450)-g, adbSNP:5030870
complement(487..488)-, cdbSNP:34233392
complement(489)-g, adbSNP:1050829
complement(496)-t, cdbSNP:78365220
complement(505)-t, gdbSNP:137852341
complement(579)-g, adbSNP:137852313
complement(600)-dbSNP:
complement(600)-g, adbSNP:137852314
complement(602)-t, cdbSNP:80149725
complement(606)-g, adbSNP:137852331
complement(630)-t, cdbSNP:137852343
complement(632)-g, adbSNP:200111236
complement(649)-g, adbSNP:281860640
complement(655)-t, adbSNP:5030872
657+c, tdbSNP:267606836
complement(676)-t, cdbSNP:5030868
complement(677)-g, adbSNP:200626353
complement(695)-g, cdbSNP:145247580
705+c, tdbSNP:137852330
complement(706)-g, c, adbSNP:137852332
complement(707)-g, adbSNP:76999693
complement(750)-t, gdbSNP:137852326
complement(761)-dbSNP:
complement(761)-t, gdbSNP:137852319
complement(793)-t, g, adbSNP:137852328
complement(851)-g, adbSNP:144341068
complement(863)-g, adbSNP:140496395
complement(899)-dbSNP:
complement(899)-g, adbSNP:146778400
complement(919)-g, adbSNP:137852346
complement(957)-g, cdbSNP:137852318
complement(962)-g, adbSNP:192737996
complement(967)-g, adbSNP:74575103
complement(984)-dbSNP:
complement(984)-g, adbSNP:137852327
complement(1050)-t, cdbSNP:150589041
complement(1062)-g, adbSNP:137852339
complement(1064)-g, adbSNP:75675507
complement(1070)-g, adbSNP:199702562
complement(1077)-t, cdbSNP:137852347
complement(1081)-t, cdbSNP:76723693
complement(1116)-g, adbSNP:5030869
complement(1118)-t, cdbSNP:75090888
complement(1136)-g, adbSNP:201321423
complement(1137)-t, cdbSNP:137852342
complement(1139)-g, adbSNP:76368830
complement(1161)-g, cdbSNP:34193178
complement(1170)-dbSNP:
complement(1170)-t, cdbSNP:137852333
complement(1172)-g, adbSNP:80280508
complement(1195)-t, cdbSNP:137852345
complement(1202)-c, adbSNP:137852329
complement(1229)-g, adbSNP:2230036
complement(1247)-g, adbSNP:200195961
complement(1259)-g, cdbSNP:138746997
complement(1266)-t, cdbSNP:137852322
complement(1269)-g, adbSNP:137852320
complement(1272)-t, cdbSNP:137852334
complement(1273)-g, adbSNP:137852321
1291+a, gdbSNP:137852316
complement(1293)-g, cdbSNP:137852335
complement(1305)-g, adbSNP:137852325
complement(1341)-t, gdbSNP:137852323
complement(1342)-g, adbSNP:137852336
complement(1353)-t, gdbSNP:201794043
complement(1358)-g, adbSNP:147131392
complement(1385)-g, adbSNP:186843026
complement(1424)-dbSNP:
complement(1424)-t, cdbSNP:2230037
complement(1429)-g, cdbSNP:137852337
complement(1442)-g, adbSNP:138919671
complement(1452)-g, adbSNP:137852317
complement(1474)-g, adbSNP:137852324
complement(1489)-dbSNP:
complement(1489)-t, g, cdbSNP:72554665
complement(1501)-g, adbSNP:72554664
complement(1513)-g, cdbSNP:137852344
complement(1544)-g, adbSNP:77214077
complement(1554)-g, adbSNP:202122673
complement(1555)-g, cdbSNP:137852348
complement(1711)-t, cdbSNP:201294737
complement(1723)-t, cdbSNP:111776132
complement(1730..1732)-, tccdbSNP:201060739
complement(1732)-, tccdbSNP:112267556
complement(1792)-g, adbSNP:147551350
complement(1933)-t, cdbSNP:112950723
complement(1950)-g, adbSNP:191319738
complement(1965)-g, adbSNP:111485003
complement(2018)-g, adbSNP:1050757
complement(2031)-g, adbSNP:1063529
complement(2072)-g, adbSNP:184987857
complement(2129)-g, adbSNP:1050830
complement(2192)-t, cdbSNP:1050773
complement(2194)-t, cdbSNP:1050774
complement(2209)-g, adbSNP:181015082
complement(2232)-t, cdbSNP:1050831
Gene SymbolG6PD
Gene SynonymG6PD1
ChromosomeX
Locus MapXq28
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000402 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA. On-demand $699.00 18
NM_001042351 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. On-demand $699.00 18
Title Serine arginine splicing factor 3 is involved in enhanced splicing of glucose-6-phosphate dehydrogenase RNA in response to nutrients and hormones in liver .
Author Walsh,C.M., Suchanek,A.L., Cyphert,T.J., Kohan,A.B., Szeszel-Fedorowicz,W. and Salati,L.M.
Journal J. Biol. Chem. 288 (4), 2816-2828 (2013)
Title Magnetic resonance angiography-defined intracranial vasculopathy is associated with silent cerebral infarcts and glucose-6-phosphate dehydrogenase mutation in children with sickle cell anaemia .
Author Thangarajh,M., Yang,G., Fuchs,D., Ponisio,M.R., McKinstry,R.C., Jaju,A., Noetzel,M.J., Casella,J.F., Barron-Casella,E., Hooper,W.C., Boulet,S.L., Bean,C.J., Pyle,M.E., Payne,A.B., Driggers,J., Trau,H.A., Vendt,B.A., Rodeghier,M. and DeBaun,M.R.
Journal Br. J. Haematol. 159 (3), 352-359 (2012)
Title Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians .
Author Sirdah,M., Reading,N.S., Vankayalapati,H., Perkins,S.L., Shubair,M.E., Aboud,L., Roper,D. and Prchal,J.T.
Journal Blood Cells Mol. Dis. 49 (3-4), 152-158 (2012)
Title Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians .
Author Al-Sweedan,S.A. and Awwad,N.
Journal Acta Haematol. 128 (4), 195-202 (2012)
Title Integrative gene expression profiling reveals G6PD-mediated resistance to RNA-directed nucleoside analogues in B-cell neoplasms .
Author McBrayer,S.K., Yarrington,M., Qian,J., Feng,G., Shanmugam,M., Gandhi,V., Krett,N.L. and Rosen,S.T.
Journal PLoS ONE 7 (7), E41455 (2012)
Title New glucose-6-phosphate dehydrogenase mutations from various ethnic groups .
Author Beutler,E., Westwood,B., Prchal,J.T., Vaca,G., Bartsocas,C.S. and Baronciani,L.
Journal Blood 80 (1), 255-256 (1992)
Title G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation .
Author Ahluwalia,A., Corcoran,C.M., Vulliamy,T.J., Ishwad,C.S., Naidu,J.M., Argusti,A., Stevens,D.J., Mason,P.J. and Luzzatto,L.
Journal Hum. Mol. Genet. 1 (3), 209-210 (1992)
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 .
Author Perng,L.I., Chiou,S.S., Liu,T.C. and Chang,J.G.
Journal Hum. Mol. Genet. 1 (3), 205 (1992)
Title Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability .
Author Filosa,S., Calabro,V., Vallone,D., Poggi,V., Mason,P., Pagnini,D., Alfinito,F., Rotoli,B., Martini,G., Luzzatto,L. et al.
Journal Br. J. Haematol. 80 (1), 111-116 (1992)
Title Glucose 6-phosphate dehydrogenase activity in membranes of erythrocytes from normal individuals and subjects with Mediterranean G6PD deficiency .
Author Benatti,U., Morelli,A., Frascio,M., Melloni,E., Salamino,F., Sparatore,B., Pontremoli,S. and De Flora,A.
Journal Biochem. Biophys. Res. Commun. 85 (4), 1318-1324 (1978)


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