Recombinant Human GFPT1 protein (ab152423)
Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, SDS-PAGE, WB
Description
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Product name
Recombinant Human GFPT1 protein -
Expression system
Wheat germ -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDW EANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHG EPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTE TIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVG TRRGSPLLIGVRSEHKLSTDHIPILYRTGKDKKGSCNLSRVDSTTCLFPV EEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGD HPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYT VNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVEL ASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTV GSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQ ERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYA TCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYA KCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSV IPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE -
Predicted molecular weight
103 kDa including tags -
Amino acids
1 to 681
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Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab152423 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
SDS-PAGE
Western blot
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- CMS12
- CMSTA1
- D-fructose-6-phosphate amidotransferase 1
see all -
Function
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. -
Tissue specificity
Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. -
Pathway
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. -
Sequence similarities
Contains 1 glutamine amidotransferase type-2 domain.
Contains 2 SIS domains. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab152423 has not yet been referenced specifically in any publications.