Overview

  • Product name

  • Description

    Rabbit polyclonal to GNE
  • Host species

    Rabbit
  • Tested applications

    Suitable for: ICC/IF, WB, IHC-Pmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Mouse, Rat, Chinese hamster
  • Immunogen

    Recombinant fragment corresponding to Human GNE aa 282-422.
    Sequence:

    VPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENV LHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQE PLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLRVA


    Database link: Q9Y223

  • Positive control

    • ICC/IF: A431 cells. WB: A549 cell lysate. IHC-P: Human liver tissue.
  • General notes

     This product was previously labelled as GLCNE

     

Properties

  • Form

    Liquid
  • Storage instructions

    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.
  • Storage buffer

    pH: 7.20
    Preservative: 0.02% Sodium azide
    Constituents: PBS, 40% Glycerol
  • Concentration information loading...
  • Purity

    Immunogen affinity purified
  • Clonality

    Polyclonal
  • Isotype

    IgG
  • Research areas

Applications

Our Abpromise guarantee covers the use of ab244403 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
ICC/IF Use a concentration of 1 - 4 µg/ml.

Fixation/Permeabilization: PFA/Triton X-100.

WB Use a concentration of 0.4 µg/ml.
IHC-P 1/50 - 1/200. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.

Target

  • Function

    Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.
  • Tissue specificity

    Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon.
  • Pathway

    Amino-sugar metabolism; N-acetylneuraminate biosynthesis.
  • Involvement in disease

    Defects in GNE are a cause of sialuria (SIALURIA) [MIM:269921]; also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.
    Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:600737]. Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy.
    Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:605820]; also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.
  • Sequence similarities

    In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.
    In the C-terminal section; belongs to the ROK (NagC/XylR) family.
  • Post-translational
    modifications

    Phosphorylated by PKC.
  • Cellular localization

    Cytoplasm.
  • Information by UniProt
  • Database links

  • Alternative names

    • 2310066H07Rik antibody
    • Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase antibody
    • DMRV antibody
    • GLCNE_HUMAN antibody
    • Glucosamine (UDP N acetyl) 2 epimerase/N acetylmannosamine kinase antibody
    • GNE antibody
    • IBM2 antibody
    • ManAc kinase antibody
    • N acylmannosamine kinase antibody
    • N-acetylmannosamine kinase antibody
    • NM antibody
    • RP23-209M8.6 antibody
    • Uae1 antibody
    • UDP GlcNAc 2 epimerase antibody
    • UDP GlcNAc 2 epimerase/ManAc kinase antibody
    • UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase antibody
    • UDP-GlcNAc-2-epimerase antibody
    • UDP-GlcNAc-2-epimerase/ManAc kinase antibody
    • Uridine diphosphate N acetylglucosamine 2 epimerase antibody
    • Uridine diphosphate-N-acetylglucosamine-2-epimerase antibody
    see all

Images

  • PFA-fixed, Triton X-100 permeabilized A431 (human epidermoid carcinoma cell line) cells stained for GNE (green) using ab244403 at 4 µg/ml in ICC/IF.

  • Paraffin-embedded human liver tissue stained for GNE using ab244403 at 1/50 dilution in immunohistochemical analysis.

  • Anti-GNE antibody (ab244403) at 0.4 µg/ml + A549 (Human lung carcinoma cell line) cell lysate

References

ab244403 has not yet been referenced specifically in any publications.

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