GFPT1 è un gene codificato dal simbolo GFPT1. Comunemente indicato anche come: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; D-fructose-6-phosphate amidotransferase 1; Glutamine:fructose-6-phosphate amidotransferase 1; GFAT 1; Hexosephosphate aminotransferase 1; GFAT; GFPT. GFPT1 ha una massa di 78.81kDa, una lunghezza di amminoacidi di 699, ed è implicato in Myasthenic syndrome, congenital, 12.
Offriamo 2 anticorpi contro GFPT1, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.
Coinvolgimento nella malattia
Myasthenic syndrome, congenital, 12: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.
