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Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000290 Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_000290.3, 259490363
Length 888 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.
Product phosphoglycerate mutase 2

Summary: Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009].

##Evidence-Data-START## Transcript exon combination :: BC001904.1, BF340226.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_000281.2
CDS 59..820
Misc Feature(1)71..>325
Misc Feature(2)71..>325
Misc Feature(3)order(86..91,242..244)
Misc Feature(4)242..244
Misc Feature(5)<539..742
Exon (1)1..472
Gene Synonym:GSD10; PGAM-M; PGAMM
Exon (2)473..653
Gene Synonym:GSD10; PGAM-M; PGAMM
Exon (3)654..857
Gene Synonym:GSD10; PGAM-M; PGAMM
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Position Chain Variation Link
complement(9)-c, adbSNP:113274029
complement(13)-t, cdbSNP:201738712
complement(26)-t, gdbSNP:201610176
complement(37)-g, cdbSNP:199776384
complement(76)-g, cdbSNP:143473990
complement(103)-t, cdbSNP:142350623
complement(134)-c, adbSNP:199510965
complement(163)-g, adbSNP:147733064
complement(173)-t, gdbSNP:147126221
complement(177)-t, cdbSNP:140545494
complement(206)-t, gdbSNP:151308911
complement(241)-t, cdbSNP:202091578
complement(252)-t, cdbSNP:200420235
complement(274)-g, adbSNP:111656877
complement(275)-t, cdbSNP:148629845
complement(279)-g, adbSNP:146457753
complement(291)-g, adbSNP:10250779
complement(306)-t, cdbSNP:139100874
complement(317)-t, cdbSNP:1129638
complement(322)-g, adbSNP:146272559
complement(324)-c, adbSNP:104894030
complement(326)-t, cdbSNP:104894034
complement(329)-g, adbSNP:149756727
complement(334)-g, adbSNP:201201589
complement(336)-c, adbSNP:13310406
complement(346)-t, cdbSNP:139561812
complement(348)-t, cdbSNP:77938727
complement(350)-t, cdbSNP:1129639
complement(368)-t, cdbSNP:150570281
complement(382)-t, cdbSNP:112828964
complement(399)-c, adbSNP:61756062
complement(408)-t, cdbSNP:201067955
complement(423)-g, adbSNP:147273213
complement(424)-t, cdbSNP:143830182
complement(427)-g, cdbSNP:202087044
complement(433)-t, cdbSNP:145985559
complement(480)-t, cdbSNP:144310510
complement(500)-t, cdbSNP:117048953
complement(513)-g, adbSNP:199869174
complement(517)-g, adbSNP:143809043
complement(523)-t, gdbSNP:149013778
complement(542)-g, adbSNP:199977298
complement(543)-t, cdbSNP:138954968
complement(559)-c, adbSNP:150235677
complement(602)-g, adbSNP:141047511
complement(604)-t, gdbSNP:11544895
complement(653)-c, adbSNP:201908821
complement(655)-c, adbSNP:200712029
complement(735)-g, adbSNP:146440683
complement(737)-c, adbSNP:1129670
complement(748)-t, cdbSNP:2075430
complement(756)-c, adbSNP:201126185
complement(764)-t, cdbSNP:144070530
complement(765)-t, gdbSNP:140230479
complement(771)-g, adbSNP:146676508
complement(784)-g, adbSNP:142209394
complement(800..801)-, cdbSNP:144439892
complement(813)-t, gdbSNP:148683651
complement(825)-c, adbSNP:11981056
Gene SymbolPGAM2
Gene SynonymGSD10; PGAM-M; PGAMM
Locus Map7p13-p12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000290 Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA. In-stock $348.00 $299.00 10
Title Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene .
Author Hadjigeorgiou,G.M., Kawashima,N., Bruno,C., Andreu,A.L., Sue,C.M., Rigden,D.J., Kawashima,A., Shanske,S. and DiMauro,S.
Journal Neuromuscul. Disord. 9 (6-7), 399-402 (1999)
Title The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency .
Author Tsujino,S., Shanske,S., Sakoda,S., Fenichel,G. and DiMauro,S.
Journal Am. J. Hum. Genet. 52 (3), 472-477 (1993)
Title Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase .
Author Castella-Escola,J., Ojcius,D.M., LeBoulch,P., Joulin,V., Blouquit,Y., Garel,M.C., Valentin,C., Rosa,R., Climent-Romeo,F. and Cohen-Solal,M.
Journal Gene 91 (2), 225-232 (1990)
Title In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13 .
Author Castella-Escola,J., Mattei,M.G., Ojcius,D.M., Passage,E., Valentin,C. and Cohen-Solal,M.
Journal Hum. Genet. 84 (2), 210-212 (1990)
Title Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase .
Author Tsujino,S., Sakoda,S., Mizuno,R., Kobayashi,T., Suzuki,T., Kishimoto,S., Shanske,S., DiMauro,S. and Schon,E.A.
Journal J. Biol. Chem. 264 (26), 15334-15337 (1989)
Title Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase .
Author Shanske,S., Sakoda,S., Hermodson,M.A., DiMauro,S. and Schon,E.A.
Journal J. Biol. Chem. 262 (30), 14612-14617 (1987)
Title Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy .
Author DiMauro,S., Miranda,A.F., Khan,S., Gitlin,K. and Friedman,R.
Journal Science 212 (4500), 1277-1279 (1981)

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