Dysferlin antibody

Catalog No. ABIN265388

Product Details anti-Dysferlin Antibody

Target: Dysferlin (DYSF)

Reactivity: Human, Mouse

Host: Rabbit

Clonality: Polyclonal

Conjugate: This Dysferlin antibody is un-conjugated

Application: Western Blotting (WB), Immunofluorescence (IF), Enzyme Immunoassay (EIA)

Specificity: This antibody detects endogenous levels of DP-1/TFDP1 protein (region surrounding Pro2013).

Purification: The antibody was affinity-purified from rabbit antiserum by affinity chromatography using epitope-specific immunogen

Purity: > 95 % pure by SDS-PAGE

Application Details

Application Notes: ELISA: 1: 10000approx. 1: 20000. WB: 1: 500approx. 1: 1000.
Other applications not tested.
Optimal dilutions are dependent on conditions and should be determined by the user.

Restrictions: For Research Use only

Handling

Concentration: 1.0 mg/mL

Buffer: Phosphate buffered saline (PBS), pH 7.2., 0.05 % Sodium azide

Preservative: Sodium azide

Precaution of Use: This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Handling Advice: Avoid repeated freezing and thawing.

Storage: 4 °C/-20 °C

Storage Comment: Store undiluted at 2-8 °C for one month or (in aliquots) at -20 °C for longer.

Target Details for Dysferlin

Target: Dysferlin (DYSF)

Alternative Name: Dysferlin (DYSF Products)

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 2p13.3-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 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.Synonyms: DYSF, Dystrophy-associated fer-1-like protein, FER1L1, Fer-1-like protein 1

Molecular Weight: approx. 240 kDa

Gene ID: 8291

NCBI Accession: NP_001123927

UniProt: O75923