Dysferlin polyclonal Antibody | BS90435

Dysferlin polyclonal Antibody | BS90435 | Gentaur UK, US & Europe Distribution

Host: Rabbit

Reactivity: Human, Mouse

Application: WB ICC/IF IHC

Application Range: WB:1:1,000-1:5,000 ICC:1:50-1:200 IHC:1:50-1:200

Background: 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.

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

Specificity: Dysferlin polyclonal Antibody detects endogenous levels of Dysferlin protein.

Molecular Weight: 237 kDa

Note: For research use only, not for use in diagnostic procedure.

Alternative Names: DYSF, DMAT, DYSF, DYSF, 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,

Immunogen: recombinant protein

Conjugate: Unconjugated

Modification: Unmodification

Purification & Purity: ProA affinity purified

Pathway: