Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MGSSHHHHHH SSGLVPRGSH MGSQQIMKGN FSSFMQKEIF EQPESVVNTM RGRVNFDDYT VNLGGLKDHI KEIQRCRRLI LIACGTSYHA GVATRQVLEE LTELPVMVEL ASDFLDRNTP VFRDDVCFFL SQSGETADTL MGLRYCKERG ALTVGITNTV GSSISRETDC GVHINAGPEI GVASTKAYTS QFVSLVMFAL MMCDDRISMQ ERRKEIMLGL KRLPDLIKEV LSMDDEIQKL ATELYHQKSV LIMGRGYHYA TCLEGALKIK EITYMHSEGI LAGELKHGPL ALVDKLMPVI MIIMRDHTYA KCQNALQQVV ARQGRPVVIC DKEDTETIKN TKRTIKVPHS VDCLQGILSV IPLQLLAFHL AVLRGYDVDF PRNLAKSVTV E
    • Molecular weight
      44 kDa including tags
    • Amino acids
      332 to 699
    • Tags
      His tag N-Terminus
    • Additional sequence information
      NP_001231639.

Specifications

Our Abpromise guarantee covers the use of ab183244 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Mass Spectrometry

    SDS-PAGE

  • Mass spectrometry
    MALDI-TOF
  • Purity
    >95% by SDS-PAGE .
    ab183244 was purified using conventional chromatography techniques.
  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 8.0
    Constituents: 0.32% Tris HCl, 0.88% Sodium chloride, 50% Glycerol, 0.03% DTT, 0.06% EDTA

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

  • 15% SDS-PAGE analysis of ab183244 (3μg).

References

ab183244 has not yet been referenced specifically in any publications.

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