Gene Symbol | PGM3 |
Entrez Gene ID | 5238 |
Full Name | phosphoglucomutase 3 |
Synonyms | AGM1,IMD23,PAGM,PGM 3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This 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]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency 23, 615816 (3) |