Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 1 (GFPT1) Reagents

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.

Myasthenic syndrome, congenital, 12 (CMS12)

Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.

GFA; GFAT; GFPT; MSLG; CMS12; GFAT1; CMSTA1; GFAT 1; GFAT1m; GFPT1L; GFPT1

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate.