GFPT1 Antibody – Rabbit Polyclonal

GFAT: 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. Homotetramer (Potential). Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Carbohydrate Metabolism - amino sugar and nucleotide sugar; Amino Acid Metabolism - alanine, aspartate and glutamate; Transferase; EC 2.6.1.16

Chromosomal Location of Human Ortholog: 2p13

Cellular Component: cytosol

Molecular Function: amino acid binding; carbohydrate binding; glutamine-fructose-6-phosphate transaminase (isomerizing) activity

Biological Process: response to sucrose stimulus; unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; cellular response to insulin stimulus; unfolded protein response; glucosamine biosynthetic process; energy reserve metabolic process; UDP-N-acetylglucosamine biosynthetic process; glutamine metabolic process; protein amino acid N-linked glycosylation via asparagine; circadian regulation of gene expression; post-translational protein modification; fructose 6-phosphate metabolic process; carbohydrate biosynthetic process; negative regulation of glycogen biosynthetic process; protein homotetramerization

Disease: Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency; Myasthenic Syndrome, Congenital, With Tubular Aggregates 1