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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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC; Transferase
Chromosomal Location of Human Ortholog: 2p13.3
Cellular Component: cytosol
Molecular Function: glutamine-fructose-6-phosphate transaminase (isomerizing) activity
Biological Process: circadian regulation of gene expression; energy reserve metabolic process; fructose 6-phosphate metabolic process; protein amino acid N-linked glycosylation; UDP-N-acetylglucosamine biosynthetic process; UDP-N-acetylglucosamine metabolic process
Disease: Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency; Myasthenic Syndrome, Congenital, With Tubular Aggregates 1
Reference #:  Q06210 (UniProtKB)
Alt. Names/Synonyms: D-fructose-6-phosphate amidotransferase 1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m; GFPT; GFPT1; Glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1; glutamine-fructose-6-phosphate transaminase 1; glutamine: fructose-6-phosphate amidotransferase-1; Glutamine:fructose 6 phosphate amidotransferase 1; Hexosephosphate aminotransferase 1
Gene Symbols: GFPT1
Molecular weight: 78,806 Da
Basal Isoelectric point: 6.66  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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