Overview

  • Product nameAnti-POMGNT1 antibody
    See all POMGNT1 primary antibodies
  • Description
    Rabbit polyclonal to POMGNT1
  • Tested applicationsSuitable for: WB, IHC-Pmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Mouse, Rat, Cow, Pig
  • Immunogen

    Recombinant protein fragment with a sequence corresponding to a region within amino acids 98 and 343 of Human POMGNT1

  • Positive control
    • HeLa, HepG2 cell lines. Paraffin-embedded Cal27 xenograft

Properties

  • FormLiquid
  • Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
  • Storage bufferPreservative: 0.01% Thimerosal (merthiolate)
    Constituents: 10% Glycerol, 0.1M Tris, 0.1M Glycine, pH 7.0
  • Concentration information loading...
  • PurityImmunogen affinity purified
  • ClonalityPolyclonal
  • IsotypeIgG
  • Research areas

Associated products

Applications

Our Abpromise guarantee covers the use of ab96353 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
WB 1/500 - 1/3000. Predicted molecular weight: 75 kDa.
IHC-P 1/100 - 1/500.

Target

  • FunctionParticipates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
  • Tissue specificityConstitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.
  • PathwayProtein modification; protein glycosylation.
  • Involvement in diseaseDefects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]. MDDGA3 is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly and cerebellar hypoplasia. MDDGA3 patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks.
    Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151]; also called muscular dystrophy congenital POMGNT1-related. MDDGB3 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.
    Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C3 (MDDGC3) [MIM:613157]; also called muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related. MDDGC3 is a rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.
  • Sequence similaritiesBelongs to the glycosyltransferase 13 family.
  • DomainAmino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form.
  • Cellular localizationGolgi apparatus membrane.
  • Information by UniProt
  • Database links
  • Alternative names
    • 2-N-acetylglucosaminyltransferase 1 antibody
    • 2-N-acetylglucosaminyltransferase I.2 antibody
    • GnT I.2 antibody
    • GnTI.2 antibody
    • MEB antibody
    • MGAT 1.2 antibody
    • MGAT1.2 antibody
    • O linked mannose beta1 2 N acetylglucosaminyltransferase antibody
    • PMGT1_HUMAN antibody
    • POMGNT 1 antibody
    • POMGnT1 antibody
    • Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1 antibody
    • Protein O linked mannose beta1 2 N acetylglucosaminyltransferase antibody
    • Protein O-linked-mannose beta-1 antibody
    • UDP GlcNAc antibody
    • UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2 antibody
    • UDP-GlcNAc:alpha-D-mannoside beta-1 antibody
    see all

Anti-POMGNT1 antibody images

  • All lanes : Anti-POMGNT1 antibody (ab96353) at 1/1000 dilution

    Lane 1 : HeLa whole cell lysate
    Lane 2 : Hep G2 whole cell lysate

    Lysates/proteins at 30 µg per lane.


    Predicted band size : 75 kDa
  • ab96353, at 1/500, staining paraffin-embedded Cal27 xenograft by Immunohistochemistry.

References for Anti-POMGNT1 antibody (ab96353)

ab96353 has not yet been referenced specifically in any publications.

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