PGM1, Official Symbol PGM1provided by HGNC Official Full Name phosphoglucomutase 1provided by HGNC Primary source HGNC:HGNC:8905 See related Ensembl:ENSG00000079739 MIM:171900; AllianceGenome:HGNC:8905 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CDG1T; GSD14 Summary The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in fat (RPKM 59.8), liver (RPKM 51.7) and 25 other tissues See more Orthologs mouse all