Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDW EANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHG EPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTE TIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVG TRRGSPLLIGVRSEHKLSTDHIPILYRTGKDKKGSCNLSRVDSTTCLFPV EEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGD HPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYT VNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVEL ASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTV GSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQ ERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYA TCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYA KCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSV IPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
    • Molecular weight
      103 kDa including tags
    • Amino acids
      1 to 681

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.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

Preparation and Storage

  • 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

  • Alternative names
    • CMS12
    • CMSTA1
    • D-fructose-6-phosphate amidotransferase 1
    • GFA
    • GFAT
    • GFAT 1
    • GFAT1
    • GFAT1m
    • GFPT
    • Gfpt1
    • GFPT1_HUMAN
    • GFPT1L
    • Glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    • Glutamine--fructose-6-phosphate transaminase 1
    • Glutamine:fructose 6 phosphate amidotransferase 1
    • Hexosephosphate aminotransferase 1
    • MSLG
    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

Images

  • 12.5% SDS-PAGE analysis of ab152423 stained with Coomassie Blue.

References

ab152423 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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