NCIt definition : Human GFPT1 wild-type allele is located in the vicinity of 2p13.3 and is approximately
67 kb in length. This allele, which encodes glutamine-fructose-6-phosphate aminotransferase
[isomerizing] 1 protein, plays a role in regulation of both glucose metabolism and
the availability of hexosamine precursors for protein glycosylation. Mutation of the
gene is associated with congenital myasthenic syndrome 12.;
OMIM relation
