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SAB4200388

Sigma-Aldrich

Anti-Dysferlin (N-terminal region) antibody produced in rabbit

enhanced validation

~1.5 mg/mL, affinity isolated antibody

Synonyme(s) :

Anti-Dysferlin (N-terminal region) antibody produced in rabbit, Anti-DYSF, Anti-Limb girdle muscular dystrophy 2B

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About This Item

Code UNSPSC :
12352203
Nomenclature NACRES :
NA.41

Source biologique

rabbit

Conjugué

unconjugated

Forme d'anticorps

affinity isolated antibody

Type de produit anticorps

primary antibodies

Clone

polyclonal

Forme

buffered aqueous solution

Poids mol.

~250 kDa

Espèces réactives

human, mouse

Validation améliorée

recombinant expression
Learn more about Antibody Enhanced Validation

Concentration

~1.5 mg/mL

Technique(s)

immunocytochemistry: 7-14 μg/mL using differentiated C2C12 myoblasts
immunoprecipitation (IP): 5-10 μg using HEK-293T cells over-expressing human dysferlin
western blot: 0.5-1.0 μg/mL using HEK-293T cells over-expressing human dysferlin

Numéro d'accès UniProt

O75923

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

human ... DYSF(8291)
mouse ... Dysf(26903)

Catégories apparentées

Description générale

Dysferlin is a transmembrane protein, that belongs to the ferlin-1 family of proteins including myoferlin and otoferlin. It is homologous to the C. elegans fer-1 protein. Dysferlin is expressed in kidney cells, skeletal and cardiac muscle.
Dysferlin is encoded by the gene mapped to human chromosome 2p13.2

Spécificité

Anti-Dysferlin (N-terminal region) specifically recognizes human and mouse Dysferlin.

Immunogène

synthetic peptide corresponding to a sequence in the N-terminal region of human dysferlin (GeneID: 8291), conjugated to KLH.

Application

Anti-Dysferlin (N-terminal region) antibody produced in rabbit has been used in:
  • immunoblotting
  • immunoprecipitation
  • immunofluorescence

Actions biochimiques/physiologiques

Dysferlin is implicated in membrane fusion events. It plays a role in membrane repair processes, such as the ability to reseal the sarcolemma upon muscle injury. Dysferlin localization in the membrane and trafficking is impaired by mutations in caveolin-1 and -3. Mutations in the dysferlin gene are associated with limb-girdle muscle dystrophy type 2B (LGMD2B), distal anterior compartment myopathy and related Miyoshi myopathy.

Forme physique

solution in 0.01 M phos­phate buffered saline, pH 7.4, containing 15 mM sodium azide.

Stockage et stabilité

For continuous use, store at 2-8 °C for up to one month. For extended storage, freeze in working aliquots. Repeated freezing and thawing, or storage in “frost-free” freezers,is not recommended. If slight turbidity occurs upon prolonged storage, clarify the solution by centrifugation before use. Working dilutions should be discarded if not used within 12 hours.

Clause de non-responsabilité

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Code de la classe de stockage

10 - Combustible liquids

Point d'éclair (°F)

Not applicable

Point d'éclair (°C)

Not applicable

Certificats d'analyse (COA)

Recherchez un Certificats d'analyse (COA) en saisissant le numéro de lot du produit. Les numéros de lot figurent sur l'étiquette du produit après les mots "Lot" ou "Batch".

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Retrouvez la documentation relative aux produits que vous avez récemment achetés dans la Bibliothèque de documents.

Consulter la Bibliothèque de documents

Florian Barthélémy et al.
Journal of neuromuscular diseases, 5(1), 21-28 (2018-02-27)
Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3
Hernandez-Deviez DJ, et al.
Human Molecular Genetics, 15(1), 129-142 (2005)
Kyowon Seo et al.
Molecular therapy. Methods & clinical development, 21, 702-709 (2021-06-19)
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients have at least
S H Laval et al.
Neuropathology and applied neurobiology, 30(2), 91-105 (2004-03-27)
The limb-girdle muscular dystrophies are a diverse group of muscle-wasting disorders characteristically affecting the large muscles of the pelvic and shoulder girdles. Molecular genetic analyses have demonstrated causative mutations in the genes encoding a disparate collection of proteins involved in
Louise Glover et al.
Traffic (Copenhagen, Denmark), 8(7), 785-794 (2007-06-06)
The muscular dystrophies are a heterogeneous group of inherited disorders, defined by progressive muscle weakness and atrophy. Following the discovery of dystrophin, remarkable progress has been made in defining the molecular properties of proteins involved in the various dystrophies. This

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