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gene: PGM3

id5238
symbolPGM3
organismHomo sapiens
full namephosphoglucomutase 3
summaryThis gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
variant-disease

NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) AND Immunodeficiency 23

NM_015599.3(PGM3):c.33A>G (p.Ala11=) AND Immunodeficiency 23

NM_015599.3(PGM3):c.1126A>C (p.Thr376Pro) AND not provided

NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) AND Immunodeficiency 23

NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) AND Immunodeficiency 23

... 65 more


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