Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.
| RefSeq Version | NM_000290.3, 259490363 |
| Length | 888 bp |
| Structure | linear |
| Update Date | 25-DEC-2010 |
| 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]. |
| RefSeq | NP_000281.2 |
| CDS | 59..820 | Exon (1) | 1..472 | Exon (2) | 1..472 | Exon (3) | 473..653 | Exon (4) | 654..857 |
| Translation | MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVL
KRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFD
IPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKR
VLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR
KAMEAVAAQGKAK
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| Position | Chain | Variation | Link |
| complement(9) | - | c, a | dbSNP:113274029 |
| complement(134) | - | c, a | dbSNP:77097598 |
| complement(274) | - | g, a | dbSNP:111656877 |
| 291 | + | a, c, g, t | dbSNP:10250779 |
| 317 | + | c, t | dbSNP:1129638 |
| 324 | + | a, c | dbSNP:104894030 |
| 326 | + | c, t | dbSNP:104894034 |
| complement(336) | - | c, a | dbSNP:13310406 |
| complement(348) | - | t, g, c, a | dbSNP:77938727 |
| 350 | + | c, t | dbSNP:1129639 |
| complement(382) | - | t, c | dbSNP:112828964 |
| complement(399) | - | c, a | dbSNP:61756062 |
| complement(500) | - | t, c | dbSNP:117048953 |
| 737 | + | a, c | dbSNP:1129670 |
| complement(825) | - | c, a | dbSNP:11981056 |
| Gene Symbol | PGAM2 |
| Gene Synonym | GSD10; MGC88743; PGAM-M; PGAMM |
| Chromosome | 7 |
| Locus Map | 7p13-p12 |
| All Transcripts | NM_000290 |
| 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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