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Rabbit polyclonal to GFPT1
Predicted to work with:
Recombinant fragment corresponding to Human GFPT1 aa 525-681 (C terminal). (BC045641).
DEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGE LKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKED TETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNL AKSVTVE
WB: HeLa and Human kidney lysates. IHC-P: Human fetal testis tissue.
Lyophilised:Reconstitute in 200ul Sterile Distilled Water.
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Preservative: 0.02% Sodium azide Constituents: 99% PBS, 1% BSA
Concentration information loading...
Immunogen affinity purified
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in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/200 - 1/1000. Predicted molecular weight: 77 kDa.
1/100 - 1/500.
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.
Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.
Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.
Involvement in disease
Defects in GFPT1 are the cause of limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]. A congenital myasthenic syndrome 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.
Contains 1 glutamine amidotransferase type-2 domain.
Contains 2 SIS domains.
Information by UniProt
D-fructose-6-phosphate amidotransferase 1 antibody
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