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DYSF Antibody - middle region : Biotin (ARP45479_P050-Biotin)

Product Specifications

Gene Name

Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Gene Aliases

MMD1, FER1L1, LGMD2B, LGMDR2

Gene ID

8291

Swiss Prot

O75923

Accession Number

NP_003485

Host

Rabbit

Reactivity

Human, Mouse, Rat, Cow, Dog, Guinea Pig, Horse, Rabbit

Immunogen

The immunogen is a synthetic peptide directed towards the middle region of human DYSF

Target

DYSF 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, DYSF 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.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Partner Proteins

UBC; HECW2; HDAC6; CAV3; ANXA2; ANXA1; CAPN3

Clonality

Polyclonal

Conjugation

Biotin

Type

Polyclonal Antibody

Applications

WB

Purification

Affinity Purified

Concentration

0.5 mg/ml

Homology

Cow: 93%; Dog: 93%; Guinea Pig: 100%; Horse: 93%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%

Format

Liquid. Purified antibody supplied in 1x PBS buffer.

Reconstitution

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

Molecular Weight

237kDa

References & Citations

Bashir, R., Neuromuscul. Disord. 17 (11-12), 950-954 (2007)

Shipping Conditions

Wet Ice

Protein Length

2080

NCBI Gene Symbol

DYSF

NCBI GB Accession Number

DYSF

Host or Source

Rabbit

Protein Name

Dysferlin

Nucleotide Accession Number

NM_003494

Peptide Sequence

IVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFEL

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