Dysferlin (P2013) pAb

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 2p13.3-p13.1, are associated with limb girdle muscular dystrophy-2B (LGMD-2B) and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM). Dysferlin, a protein with a molecular mass of approximately 230 kDa, 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 nvolved 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.

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SPECIFICATIONS

Catalog Number

BS1094

Size

100ug/100ul

Applications

IF, WB

Hosts

Rabbit

Reactivities

Hum, Mouse, Rat

Form

liquid

Purity

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).

Antigen

Synthetic peptide, corresponding to amino acids 1981-2030 of Human Dysferlin.

Species

Dysferlin (P2013) pAb detects endogenous levels of DP-1/TFDP1 protein.

Dilutions

WB: 1:500~1:1000\nIF: 1:50~1:200

Swiss Prot

O75923

Storage Temp

Store at 4 degrees C short term. Aliquot and store at -20 degrees C long term. Avoid freeze-thaw cycles.

Concentration

1ug/ul