Overview

  • Product name

  • Description

    Rabbit polyclonal to GFPT1
  • Host species

    Rabbit
  • Tested applications

    Suitable for: IHC-Pmore details
  • Species reactivity

    Reacts with: Human
  • Immunogen

    Synthetic peptide conjugated to KLH, corresponding to C terminal amino acids of Human GFPT1.

  • Positive control

    • Human kidney and liver tissues.

Properties

Applications

Our Abpromise guarantee covers the use of ab129273 in the following tested applications.

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

Application Abreviews Notes
IHC-P Use a concentration of 2.5 - 5 µg/ml. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.

Target

  • 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
  • Database links

  • Alternative names

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

Images

  • ab129273, at 5 µg/ml, staining GFPT1 in Formalin-fixed, Paraffin-embedded Human kidney tissue by Immunohistochemistry.
  • ab129273, at 5 µg/ml, staining GFPT1 in Formalin-fixed, Paraffin-embedded Human liver tissue by Immunohistochemistry.

References

ab129273 has not yet been referenced specifically in any publications.

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