Full Product Name
DYSF Antibody
Product Synonym Names
MMD1; FER1L1; LGMD2B
Product Gene Name
anti-DYSF antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for O75923
Species Reactivity
Human, Mouse
Specificity
The antibody detects endogenous levels of total DYSF protein.
Purity/Purification
Antigen Affinity Purification
Form/Format
Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
Concentration
1.8 mg/ml (lot specific)
Immunogen
Synthetic peptide of human DYSF
Preparation and Storage
Store at -20 degree C
Other Notes
Small volumes of anti-DYSF antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-DYSF antibody
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants.
Product Categories/Family for anti-DYSF antibody
Total protein Ab
Applications Tested/Suitable for anti-DYSF antibody
Immunohistochemistry (IHC)
Immunohistochemistry (IHC) of anti-DYSF antibody
Immunohistochemical analysis of paraffin-embedded Human brain tissue using at dilution 1/25,
NCBI/Uniprot data below describe general gene information for DYSF. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001123927.1
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NCBI GenBank Nucleotide #
NM_001130455.1
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UniProt Primary Accession #
O75923
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UniProt Secondary Accession #
A0FK00; B1PZ70; B1PZ71; B1PZ72; B1PZ73; B1PZ74; B1PZ75; B1PZ76; B1PZ77; B1PZ78; B1PZ79[Other Products]
UniProt Related Accession #
O75923[Other Products]
Molecular Weight
222,315 Da
NCBI Official Full Name
dysferlin isoform 2
NCBI Official Synonym Full Names
dysferlin
NCBI Official Symbol
DYSF??[Similar Products]
NCBI Official Synonym Symbols
MMD1; FER1L1; LGMD2B
??[Similar Products]
NCBI Protein Information
dysferlin
UniProt Protein Name
Dysferlin
UniProt Synonym Protein Names
Dystrophy-associated fer-1-like protein; Fer-1-like protein 1
UniProt Gene Name
DYSF??[Similar Products]
UniProt Synonym Gene Names
FER1L1??[Similar Products]
UniProt Entry Name
DYSF_HUMAN
UniProt Comments for DYSF
DYSF: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B). LGMD2B is an autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. Defects in DYSF are the cause of Miyoshi muscular dystrophy type 1 (MMD1). MMD1 is a late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early *****hood. Otherwise the phenotype overlaps with LGMD2B, especially in age at onset and creatine kinase elevation. Defects in DYSF are the cause of distal myopathy with anterior tibial onset (DMAT). Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. Belongs to the ferlin family. 15 isoforms of the human protein are produced by alternative splicing.
Protein type: Calcium-binding; Membrane protein, integral; Vesicle
Chromosomal Location of Human Ortholog: 2p13.3
Cellular Component: cytoplasmic vesicle membrane; early endosome; endocytic vesicle; endosome; late endosome; plasma membrane; sarcolemma; T-tubule
Molecular Function: calcium ion binding; calcium-dependent phospholipid binding; phospholipid binding; protein binding
Biological Process: muscle contraction
Disease: Miyoshi Muscular Dystrophy 1; Muscular Dystrophy, Limb-girdle, Type 2b; Myopathy, Distal, With Anterior Tibial Onset
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