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


RefSeq Accession Definition Sequence Price Select
NM_001042351 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. Full Lenth $658.30
ORF Sequence $448.92


RefSeq Version NM_001042351.1, 108773792
Length 2270 bp
Structure linear
Update Date 27-MAR-2011
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].


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
Exon (1)1..105
Exon (2)1..105
Exon (3)106..233
Exon (4)234..271
Exon (5)272..380
Exon (6)381..598
Exon (7)599..757
Exon (8)758..883
Exon (9)884..977
Exon (10)978..1164
Exon (11)1165..1400
Exon (12)1401..1477
Exon (13)1478..1570
Exon (14)1571..2270
Translation MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGL LPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQR LNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSS DRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGK ALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESEL DLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL
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Position Chain Variation Link
complement(3)-t, cdbSNP:111827785
146+c, gdbSNP:1050827
208+a, gdbSNP:137852340
216..218+, atcdbSNP:137852338
complement(244)-g, cdbSNP:78478128
256+a, c, g, tdbSNP:76645461
285+a, gdbSNP:137852315
complement(287)-t, cdbSNP:77362384
315+a, gdbSNP:1050828
317+a, gdbSNP:78351852
321+c, tdbSNP:137852349
323+c, tdbSNP:79171965
342+g, tdbSNP:11555344
complement(356)-g, adbSNP:77548451
450+a, gdbSNP:5030870
complement(487..488)-, cdbSNP:34233392
489+a, gdbSNP:1050829
496+c, tdbSNP:78365220
505+g, tdbSNP:137852341
579+a, gdbSNP:137852313
600+a, gdbSNP:137852314
complement(602)-t, cdbSNP:80149725
606+a, gdbSNP:137852331
630+c, tdbSNP:137852343
655+a, tdbSNP:5030872
676+c, tdbSNP:5030868
705+c, tdbSNP:137852330
706+a, c, gdbSNP:137852332
complement(707)-g, adbSNP:76999693
750+g, tdbSNP:137852326
761+g, tdbSNP:137852319
793+a, g, tdbSNP:137852328
919+a, gdbSNP:137852346
957+c, gdbSNP:137852318
967+a, gdbSNP:74575103
984+a, gdbSNP:137852327
1062+a, gdbSNP:137852339
1064+a, gdbSNP:75675507
1077+c, tdbSNP:137852347
1081+c, tdbSNP:76723693
1116+a, gdbSNP:5030869
complement(1118)-t, cdbSNP:75090888
1137+c, tdbSNP:137852342
complement(1139)-g, adbSNP:76368830
1161+c, gdbSNP:34193178
1170+c, tdbSNP:137852333
complement(1172)-g, adbSNP:80280508
1195+c, tdbSNP:137852345
1202+a, cdbSNP:137852329
1229+a, gdbSNP:2230036
1266+c, tdbSNP:137852322
1269+a, gdbSNP:137852320
1272+c, tdbSNP:137852334
1273+a, gdbSNP:137852321
1291+a, gdbSNP:137852316
1293+c, gdbSNP:137852335
1305+a, gdbSNP:137852325
1341+g, tdbSNP:137852323
1342+a, gdbSNP:137852336
1424+c, tdbSNP:2230037
1429+c, gdbSNP:137852337
1452+a, gdbSNP:137852317
1474+a, gdbSNP:137852324
1489+c, g, tdbSNP:72554665
1501+a, gdbSNP:72554664
1513+c, gdbSNP:137852344
complement(1544)-g, adbSNP:77214077
1555+c, gdbSNP:137852348
complement(1723)-t, cdbSNP:111776132
complement(1729)-, tccdbSNP:112267556
complement(1933)-t, cdbSNP:112950723
complement(1965)-g, adbSNP:111485003
2018+a, gdbSNP:1050757
2031+a, gdbSNP:1063529
2129+a, gdbSNP:1050830
2192+c, tdbSNP:1050773
2194+c, tdbSNP:1050774
2232+c, tdbSNP:1050831
Gene SymbolG6PD
Gene SynonymG6PD1
ChromosomeX
Locus MapXq28
All Transcripts NM_001042351 , NM_000402
Title Mediterranean glucose-6-phosphate dehydrogenase (G6PD(C563T)) mutation among Jordanian females with acute hemolytic crisis .
Author Al-Alimi,A.A., Kanakiri,N., Kamil,M., Al-Rimawi,H.S., Zaki,A.H. and Yusoff,N.M.
Journal J Coll Physicians Surg Pak 20 (12), 794-797 (2010)
Title A large, systematic molecular-genetic study of G6PD in Indian populations identifies a new non-synonymous variant and supports recent positive selection .
Author Sarkar,S., Biswas,N.K., Dey,B., Mukhopadhyay,D. and Majumder,P.P.
Journal Infect. Genet. Evol. 10 (8), 1228-1236 (2010)
Title Birth control necessary to limit family size in tribal couples with aberrant heterosis of G-6-PD deficiency and sickle cell disorders in India: an urgency of creating awareness and imparting genetic counseling .
Author Balgir,R.S.
Journal J Assoc Physicians India 58, 357-362 (2010)
Title Relating mutant genotype to phenotype via quantitative behavior of the NADPH redox cycle in human erythrocytes .
Author Coelho,P.M., Salvador,A. and Savageau,M.A.
Journal PLoS ONE 5 (9) (2010)
Title Population screening for glucose-6-phosphate dehydrogenase deficiencies in Isabel Province, Solomon Islands, using a modified enzyme assay on filter paper dried bloodspots .
Author Kuwahata,M., Wijesinghe,R., Ho,M.F., Pelecanos,A., Bobogare,A., Landry,L., Bugora,H., Vallely,A. and McCarthy,J.
Journal Malar. J. 9, 223 (2010)
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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