Overview

  • Product nameAnti-Fibrillin 1 antibody [2Q628]
    See all Fibrillin 1 primary antibodies
  • Description
    Mouse monoclonal [2Q628] to Fibrillin 1
  • Tested applicationsSuitable for: WB, IP, ELISA, ICC/IFmore details
  • Species reactivity
    Reacts with: Chicken, Cow, Human
  • Immunogen

    Human Fibrillin 1.

  • EpitopeEpitope mapping studies identify the binding site of this antibody to the C-terminal end of the molecule, between amino acid residues 2093 and 2871.

Properties

  • FormLiquid
  • Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Add glycerol to a final volume of 40% for extra stability and aliquot. Store at -20°C. Avoid freeze / thaw cycle.
  • Storage bufferPreservative: 0.1% Sodium Azide
    Constituents: PBS, pH 7.6
  • Concentration information loading...
  • Purification notesPurified immunoglobulin.
  • ClonalityMonoclonal
  • Clone number2Q628
  • IsotypeIgG1
  • Research areas

Applications

Our Abpromise guarantee covers the use of ab68444 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 Use at an assay dependent dilution. Predicted molecular weight: 312 kDa.
IP Use at an assay dependent dilution.
ELISA Use at an assay dependent dilution.
ICC/IF Use at an assay dependent dilution.

Target

  • FunctionFibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.
  • Involvement in diseaseDefects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:154700]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.
    Defects in FBN1 are a cause of isolated ectopia lentis (EL) [MIM:129600]. The symptoms of this autosomal dominant fibrillinopathy overlap with those of Marfan syndrome, with the exclusion of the skeletal and cardiovascular manifestations.
    Defects in FBN1 are the cause of Weill-Marchesani syndrome autosomal dominant (ADWMS) [MIM:608328]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
    Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.
    Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:604308]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.
    Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:184900]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.
  • Sequence similaritiesBelongs to the fibrillin family.
    Contains 47 EGF-like domains.
    Contains 9 TB (TGF-beta binding) domains.
  • Post-translational
    modifications
    Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils.
  • Cellular localizationSecreted > extracellular space > extracellular matrix.
  • Information by UniProt
  • Database links
  • Alternative names
    • 350 kDa glycoprotein component extracellular microfibril antibody
    • ACMICD antibody
    • FBN 1 antibody
    • FBN antibody
    • FBN1 antibody
    • FBN1_HUMAN antibody
    • Fibrillin 15 antibody
    • Fibrillin-1 antibody
    • Fibrillin1 antibody
    • Fibrillin15 antibody
    • GPHYSD2 antibody
    • Marfan syndrome antibody
    • MASS antibody
    • MFS 1 antibody
    • MFS1 antibody
    • OCTD antibody
    • SGS antibody
    • SSKS antibody
    • Weill Marchesani syndrome antibody
    • WMS antibody
    • WMS2 antibody
    see all

References for Anti-Fibrillin 1 antibody [2Q628] (ab68444)

ab68444 has not yet been referenced specifically in any publications.

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