Dysferlin Recombinant Rabbit Monoclonal Antibody [JF05-54]

About this product

Dysferlin is a muscle-specific protein that is essential for normal muscle function and development. Mutations in the human dysferlin gene, DYSF, which maps to chromosome 2p13.2, are associated with limb girdle muscular dystrophy-2B (LGMD-2B) and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM). Dysferlin localizes to the muscle fiber membrane, but is absent in MM and LGMD-2B muscle. Dysferlin is detected in 5-6 week embryos, when limbs begin to form regional differentiation. Although it is not essential for initial myogenesis, dysferlin appears to be critical for sustained normal function in mature muscle. It has been suggested that the absence of dysferlin during development gives rise to the disease phenotype in adulthood. Identical mutations in the dysferlin gene can produce more than one myopathy phenotype, indicating that additional genes and/or other factors are also involved in the clinical phenotype. The DYSF gene has no homology to any other known mammalian gene, but the protein product is related to the spermatogenesis factor fer-1 of Caenorhabditis elegans. The name “dysferlin” combines the role of the gene in producing muscular dystrophy with its homology to C. elegans.

Specifications

Catalog number

ET1702-45

Size / count

100 µL

Dry ice

No

Hazardous

No

Discontinued

No

CAS Number

9000-83-3

Product Name Alternative

DMAT antibody DYSF antibody DYSF_HUMAN antibody Dysferlin antibody Dysferlin limb girdle muscular dystrophy 2B (autosomal recessive) antibody Dysferlin limb girdle muscular dystrophy 2B antibody Dystrophy associated fer 1 like 1 antibody Dystrophy associated fer 1 like protein antibody Dystrophy associated fer1 like 1 antibody Dystrophy associated fer1 like protein antibody Dystrophy-associated fer-1-like protein antibody Fer 1 like protein 1 antibody Fer-1-like protein 1 antibody Fer1 like protein 1 antibody FER1L1 antibody FLJ00175 antibody FLJ90168 antibody LGMD 2B antibody LGMD2B antibody Limb girdle muscular dystrophy 2B (autosomal recessive) antibody Limb girdle muscular dystrophy 2B antibody Miyoshi myopathy antibody MM antibody MMD1 antibody

Abbreviation

DYSF

Swiss Prot

O75923 Human, Q9ESD7 Mouse

Cellular Locus

Cell membrane, Cytoplasmic vesicle membrane.

Host

Rabbit

Species Reactivity

Human, Mouse

Immunogen

Synthetic peptide within Human Dysferlin aa 113-162 / 2080.

Isotype

IgG

Conjugation

Non-conjugated

Type

Recombinant Rabbit monoclonal Antibody

Applications

WB, IF-Cell, IF-Tissue, IHC-P

Positive Control

Skeletal muscle tissue lysates, SW480, human spleen tissue, mouse skeletal muscle tissue, mouse spleen tissue, mouse heart tissue.

Concentration

1 mg/mL

Dilution

WB: 1:1,000-1:5,000;IF-Cell: 1:50-1:200;IF-Tissue: 1:50-1:200;IHC-P: 1:50-1:200

Purity

Protein A affinity purified.

Form

Liquid

Buffer

1*TBS (pH7.4), 0.05% BSA, 40% Glycerol. Preservative: 0.05% Sodium Azide.

Molecular Weight

237 kDa

Storage Conditions

Store at +4°C after thawing. Aliquot store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

Recombinant Antibody

Yes