Gene Symbol: Pgam2
Description: phosphoglycerate mutase 2
Alias: D14Mgh1, PGAM-M, Pgmut, phosphoglycerate mutase 2, BPG-dependent PGAM 2, muscle-specific phosphoglycerate mutase, phosphoglycerate mutase 2 (muscle), phosphoglycerate mutase isozyme M
DiMauro S, Miranda A, Khan S, Gitlin K, Friedman R. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science. 1981;212:1277-9 pubmed
..The prevalence of the BB isoenzyme in other tissues, including muscle culture, may explain why symptoms were confined to muscle. ..
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993;52:472-7 pubmed
..The fifth patient, the only Caucasian, was homozygous for a different point mutation, a C-to-T mutation, converting Arg to Trp (codon 90). ..
Urena J, Egea G, Grana X, Castella J, Marsal J, Carreras J, et al
. Location of phosphoglycerate mutase in rat skeletal muscle. An immunocytochemical and biochemical study. Eur J Cell Biol. 1990;51:151-6 pubmed
..Activity measurements from nuclear extracts showed that 25% of total specific activity is found in the nuclei. ..
Castella Escola J, Montoliu L, Pons G, Puigdomenech P, Cohen Solal M, Carreras J, et al
. Sequence of rat skeletal muscle phosphoglycerate mutase cDNA. Biochem Biophys Res Commun. 1989;165:1345-51 pubmed
..No amino acids changes occur at the active site and structural predictions suggest strong conformational homologies with other enzymes of the mutase family. ..
Fundele R, Winking H, Illmensee K, Jägerbauer E. Developmental activation of phosphoglycerate mutase-2 in the testis of the mouse. Dev Biol. 1987;124:562-6 pubmed
..The muscle-specific PGAM isozyme was also found in testes of bull, cat, and rat, as well as in human sperm. PGAM-B might thus be useful as a marker for germ cell differentiation, along with other germ cell-specific proteins. ..
Granstrom G, Mangs H. Inactivation of type MM phosphoglycerate mutase by sulfhydryl group reagents during facial embryogenesis. Acta Odontol Scand. 1988;46:273-9 pubmed
..Glycerate-2,3-P2 protected against tetrathionate but failed to protect against Hg2+ and p-chloromercuribenzoate...
Omenn G, Cheung S. Phosphoglycerate mutase isozyme marker for tissue differentiation in man. Am J Hum Genet. 1974;26:393-9 pubmed
Broceño C, Ruiz P, Reina M, Vilaro S, Pons G. The muscle-specific phosphoglycerate mutase gene is specifically expressed in testis during spermatogenesis. Eur J Biochem. 1995;227:629-35 pubmed
..Thus, the muscle-specific PGAM-M gene constitutes a meiotic gene and therefore represents a very interesting model to study differential tissue-specific gene expression. ..
Ruiz Lozano P, de Lecea L, Buesa C, Pérez de la Osa P, Lepage D, Gualberto A, et al
. The gene encoding rat phosphoglycerate mutase subunit M: cloning and promoter analysis in skeletal muscle cells. Gene. 1994;147:243-8 pubmed
..The conserved 27-bp region contains a transcriptional regulatory element able to confer muscle-specific expression when located upstream from a heterologous TATA box. ..