Rabbit anti-Human, Mouse DYSF Polyclonal Antibody | anti-DYSF antibody

DYSF Polyclonal Antibody

Cat. Num. AAA2561275

• Gene Names: DYSF; MMD1; FER1L1; LGMD2B; LGMDR2
• Reactivity: Human, Mouse
• Applications: Immunohistochemistry, ELISA
• Purity: Antigen Affinity Purification
• Synonyms: DYSF; Polyclonal Antibody; DYSF Polyclonal Antibody; DMAT; Dysferlin; Dysferlin limb girdle muscular dystrophy 2B (autosomal recessive); Dysferlin limb girdle muscular dystrophy 2B; Dystrophy associated fer 1 like 1; Dystrophy associated fer 1 like protein; Dystrophy associated fer1 like 1; Dystrophy associated fer1 like protein; Dystrophy-associated fer-1-like protein; Fer 1 like protein 1; Fer-1-like protein 1; Fer1 like protein 1; FER1L1; FLJ00175; FLJ90168; LGMD 2B; LGMD2B; Limb girdle muscular dystrophy 2B (autosomal recessive); Limb girdle muscular dystrophy 2B; Miyoshi myopathy; MM; MMD1; anti-DYSF antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purification
• Form/Format: PBS with 0.05% NaN3 and 40% Glycerol, pH7.4
• Concentration: 0.6mg/mL (varies by lot)
• Sequence Length: 2081

• Applicable Applications for anti-DYSF antibody: Immunohistochemistry (IHC), ELISA (EIA)
• Application Notes: IHC: 1:25-1:100; ELISA: 1:2000-1:5000
• Immunogen: Synthetic peptide of human DYSF
• Conjugation: Unconjugated
• Preparation and Storage: Store at -20 degree C. Avoid freeze/thaw cycles.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Human brain tissue using DYSF Polyclonal Antibody at dilution of 1:25(×200))

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

Cancer; Cell biology

NCBI and Uniprot Product Information

• NCBI GI #: 195976821
• NCBI GeneID: 8291
• NCBI Accession #: NP_001123927.1
• NCBI GenBank Nucleotide #: NP_001123927.1
• UniProt Accession #: O75923
• NCBI Official Full Name: dysferlin isoform 2
• NCBI Official Synonym Full Names: dysferlin
• NCBI Official Symbol: DYSF
• NCBI Official Synonym Symbols: MMD1; FER1L1; LGMD2B; LGMDR2
• NCBI Protein Information: dysferlin
• UniProt Protein Name: Dysferlin
• Protein Family: Dysferlin
• UniProt Gene Name: DYSF
• UniProt Synonym Gene Names: FER1L1
• UniProt Entry Name: DYSF_HUMAN

NCBI Description

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. [provided by RefSeq, Aug 2008]

Uniprot Description

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 adulthood. 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; endocytic vesicle; lamellipodium; early endosome; T-tubule; late endosome; integral to membrane; plasma membrane; sarcolemma; endosome

Molecular Function: protein binding; calcium-dependent phospholipid binding; phospholipid binding; calcium ion binding

Biological Process: vesicle fusion; plasma membrane repair

Disease: Myopathy, Distal, With Anterior Tibial Onset; Muscular Dystrophy, Limb-girdle, Type 2b; Miyoshi Muscular Dystrophy 1