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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19214 Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu19214C Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000290.3, 259490363
Length 762 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.
Product phosphoglycerate mutase 2
Comment

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 ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_000281.2
CDS 59..820
Misc Feature(1)71..742
Misc Feature(2)71..742
Misc Feature(3)order(86..91,242..244,614..619)
Misc Feature(4)242..244
Exon (1)1..472
Gene:PGAM2
Gene Synonym:GSD10; PGAM-M; PGAMM
Exon (2)473..653
Gene:PGAM2
Gene Synonym:GSD10; PGAM-M; PGAMM
Exon (3)654..857
Gene:PGAM2
Gene Synonym:GSD10; PGAM-M; PGAMM
Translation MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVL KRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFD IPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKR VLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR KAMEAVAAQGKAK
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Position Chain Variation Link
complement(9)-dbSNP:
complement(9)-c, adbSNP:113274029
complement(13)-t, cdbSNP:201738712
complement(26)-t, gdbSNP:201610176
complement(37)-g, cdbSNP:199776384
complement(71)-g, adbSNP:374348751
complement(76)-g, cdbSNP:143473990
complement(94)-g, adbSNP:369660945
complement(103)-t, adbSNP:142350623
complement(121)-g, adbSNP:376649290
complement(134)-c, adbSNP:199510965
complement(150)-t, cdbSNP:373605759
complement(163)-g, adbSNP:147733064
complement(173)-t, gdbSNP:147126221
complement(176)-g, adbSNP:369421780
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(306)-t, cdbSNP:139100874
complement(314)-g, adbSNP:371509257
317+c, tdbSNP:1129638
complement(322)-g, adbSNP:146272559
326+c, tdbSNP:104894034
complement(329)-g, adbSNP:149756727
complement(334)-g, adbSNP:201201589
complement(336)-t, c, adbSNP:13310406
complement(346)-t, cdbSNP:139561812
complement(348)-t, cdbSNP:77938727
350+c, tdbSNP:1129639
complement(367)-t, cdbSNP:372080857
complement(368)-t, cdbSNP:150570281
complement(371)-t, cdbSNP:368364851
complement(380)-t, cdbSNP:374395743
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(426)-g, adbSNP:372435680
complement(427)-g, cdbSNP:202087044
complement(433)-t, cdbSNP:145985559
complement(440)-t, cdbSNP:368147620
complement(480)-dbSNP:
complement(480)-t, cdbSNP:144310510
complement(484)-g, adbSNP:376134077
complement(491)-g, adbSNP:371397012
complement(499)-g, adbSNP:373213851
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(569)-t, gdbSNP:372452057
complement(573)-c, adbSNP:370003298
complement(583)-g, adbSNP:369973782
complement(597)-t, cdbSNP:375305359
complement(602)-g, adbSNP:141047511
complement(616)-g, adbSNP:371937909
complement(629)-g, adbSNP:368258088
complement(653)-c, adbSNP:201908821
complement(655)-dbSNP:
complement(655)-c, adbSNP:200712029
complement(735)-g, adbSNP:146440683
737+a, cdbSNP:1129670
complement(737)-c, adbSNP:386518021
complement(756)-c, adbSNP:201126185
complement(764)-t, cdbSNP:144070530
complement(765)-t, gdbSNP:140230479
complement(771)-g, adbSNP:146676508
complement(776)-g, cdbSNP:375024229
complement(777)-t, cdbSNP:369482159
complement(784)-g, adbSNP:142209394
complement(800..801)-, cdbSNP:144439892
complement(825)-c, adbSNP:11981056
complement(850)-g, adbSNP:368555190
complement(855)-t, cdbSNP:374509693
Gene SymbolPGAM2
Gene SynonymGSD10; PGAM-M; PGAMM
Chromosome7
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 $99.00 5-7
Title Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene .
Author Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ, 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 DM, LeBoulch P, Joulin V, Blouquit Y, Garel MC, 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 MG, Ojcius DM, 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 EA.
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 MA, DiMauro S and Schon EA.
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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