Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHL IDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLN RLKPDIMIVH
    • Amino acids
      1 to 110
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab160766 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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
    • 2310066H07Rik
    • Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase
    • DMRV
    • GLCNE_HUMAN
    • Glucosamine (UDP N acetyl) 2 epimerase/N acetylmannosamine kinase
    • GNE
    • IBM2
    • ManAc kinase
    • N acylmannosamine kinase
    • N-acetylmannosamine kinase
    • NM
    • RP23-209M8.6
    • Uae1
    • UDP GlcNAc 2 epimerase
    • UDP GlcNAc 2 epimerase/ManAc kinase
    • UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase
    • UDP-GlcNAc-2-epimerase
    • UDP-GlcNAc-2-epimerase/ManAc kinase
    • Uridine diphosphate N acetylglucosamine 2 epimerase
    • Uridine diphosphate-N-acetylglucosamine-2-epimerase
    see all
  • 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

Images

  • ab160766 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab160766 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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