Literature associating GFPT1 and congenital myasthenic syndrome 4C
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.
Synonyms: GFPT1, GFPT1p, hGFPT1, Q06210, GFA ...