Enables phosphoacetylglucosamine mutase activity. Involved in UDP-N-acetylglucosamine biosynthetic process; protein N-linked glycosylation; and protein O-linked glycosylation. Predicted to be located in cytosol. Implicated in immunodeficiency 23 and teratoma. Biomarker of cervical cancer.
RGD Description
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]