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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PGAM2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5224 Official gene symbol PGAM2 Full name phosphoglycerate mutase 2 (muscle) Aliases ,GSD10,MGC88743,PGAM-M,PGAMM, Gene 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] Location Chromosome: 7   Locus: 7p13-p12 Gene position 44105186 - 44102326  Map Viewer Gene orientation minus Gene size 2861 bp Gene sequence >PGAM2:complement(44092326..44095186):Length=2861 GGGAGTGTTGGGAAGCAGCCGTCCCCGTCCAGAGTCCTCTGTGGTCCCTGCTGCCACCAT GGCCACTCACCGCCTCGTGATGGTCCGGCACGGCGAGAGCACATGGAACCAGGAGAACCG TTTCTGTGGCTGGTTCGATGCAGAGCTGAGTGAAAAGGGGACCGAGGAGGCCAAGCGGGG AGCCAAGGCCATCAAGGATGCCAAGATGGAGTTTGACATCTGCTACACGTCAGTGCTGAA GCGGGCCATCCGCACCCTCTGGGCCATCCTGGACGGCACGGACCAGATGTGGCTGCCTGT GGTGCGCACTTGGCGCCTCAATGAGCGGCATTACGGGGGCCTCACAGGCCTCAACAAGGC AGAAACGGCCGCCAAGCACGGGGAGGAGCAGGTGAAGATCTGGAGGCGCTCCTTCGACAT CCCGCCGCCCCCGATGGACGAGAAGCACCCCTACTACAACTCCATTAGCAAGGTGGGCTG CCTTTGCTGGGAAGGCCTCTGGGAAGCTGCAGAGTGGGGAGTCGGGTGGGGGCCCACTGG CTTGGGAGGGAAAGCAGCGTGCCTGTGTCCCCCAGGAGCGTCGGTACGCAGGCCTGAAGC CCGGGGAACTCCCCACCTGCGAGAGCCTCAAGGACACCATTGCCCGGGCCCTGCCCTTCT GGAACGAGGAGATTGTTCCCCAGATCAAGGCCGGCAAGCGAGTGCTCATTGCAGCCCACG GGAACAGCCTGCGGGGCATTGTCAAGCACCTGGAAGGTGAGGCCACCTTCAGGAGCCTGG GCAGGGTGGGTGGGCAGCAGCCCCAGCTGGCTTCTCATCTCAGCAAAGTCTCTCGCCCAT GGACCAGGCTTTCTAGGCGTGGGGCTCCACATCATTCACTGAAAAAGGAGGGCTGAGAAG CCATTTTTTAGTTTTGTGAAATTTTCCCCATTTCTGTGTAACTGGGACACACTCCACAGG GGCTGACTGCACTCGAAGCTCGCTGTGTCCCGAGGTGGGGCAGGCTCCAAAGGTGGCATC TGCCAAGGGACACCCAGCTAGGAAACGGAAGGGCTGGGCTTAGAGCATCTGGCTCCAAAT CCCAACTTACTGTGGGGCCCTGGACAAGCCACCTCCATCTCTGGGCCTCTCCCTTTTCCG GGGTGGTGGGGAGCTCCCCCTGGTACTGAATTCCTCTTGATGTAGGCTTGGACCCCTCGC AGGGCCCTCCCCCATCAGGTCCTCAGAATCCCTGCATGAGCTTCACCACCTATCTCCCTC TGGAGCCCCTCTCTGGGCAAAGGAAAGACCAATCAAAAGAGGGGTGCAGGACTATGGAGT GGCCAGACTCTGGGCTTGCAGCTGGGCTCCCACTGAAGAGCAAGGGCTGACAAATGGGCC CGGGATGCATGGGCGCAGTAAGGCCTCGCCCAGAGTGACTGGCACCTCCGCTCCGCCTCC CACCTTAGTATTCTGACACAAGGGCAGTCTAAATTAGCATCTGAATGACCTTAAAGCTTG TTGAGTCCTGGAAAGGCTAGAAGGGTGTGCCCCAGACCTCCTGCTCCTAGGGCCGTTGGG CAGTTGGCCAGAGCACCCAGACCGGCAGGCCCCGGAGACCCAGCCAGCCCCAAGCCTGCC CGCTCCAAACACGGACACCTGGCACCTGGCACTGGGGCCAGGCAGAGGGAAGGACCACCT GCCTCCTCTCCCTTCCGGAGACTTCATGCAGCCCCATGACCCTCCCACAGCCTGGTTTGG GGAAAGGGGACGCACTTTTGGTGGTGAATATGAGGGATTTCACTCTGACTCCCCAGAGAA CATTTTCTTAAACCCTCCTGCACGGAGCAGGGGTGGAGTGGCGCGAACATCAAAGGTCGA GCTGCTATTCCCAGCTCAGGGGCTGCAGGAGGCAGGCAGGGTCAGGTTTCGACCAGGCTC GGCCTCCCTGTCCCTCCTCCAGCTCCATTCCGCACTTGCTCCTCTGTTCAGGATGTCTAG AATTTAGAGCACTTTAGAAACCAAAGGGTGCTGGGCACGGTGGCTCACTCCTGTAATCCC AGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTG ACCAACATGGTAAAACCCGTTTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCT CACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATCACTTCAACCCAGGAGATGGA GGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAGAGGAGTAAAACTC CATCTCAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAAAAAAAAACAAAGGGTGAGTGTCC CTTCCTGACCCTCAACTTCAGTCTGGCTGGAGTCACACTGGGCTGAGGGAACTATGGACA GCACCACCACAGATCACAGCCACTTGGGTGGGGCTGAAGTCCCCATTTTTTTCACCACTG GGCTATTTCTGTAGGCTGCTTGGTCTAACTCAGTTACTCCTTGACCTTTGGCAACATTTC TGTGGCCTCGTTCTCAGGGCTGGGAAGGAATTGGTGCCAGGGGAACTGGCTCTGTGGACC ATAAAGGTCACATAGTGTCTGCTGTGTAAACAGGCTGGGGACAGAGGGGCTAAGGACACC TATTCCTTCCGGCATAGGGATGTCAGACCAGGCGATCATGGAGCTGAACCTGCCCACGGG GATCCCCATTGTGTATGAGCTGAACAAGGAGCTGAAGCCCACCAAGCCCATGCAGTTCCT GGGTGATGAGGAAACGGTGCGGAAGGCCATGGAGGCTGTGGCTGCCCAGGGCAAGGCCAA GTGAGGGGTGGGCTTGGGCAATAAAGGCACCTCCCCCAACA OMIM ID 612931