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. Alternative splicing results in multiple transcript variants.

Pack Size

100ul, 1ml, 20ul

Applications

ELISA, IHC-P, WB

Host Species

Rabbit

Ig Isotype

IgG

Antibody Type

Monoclonal Antibody

Organism Species

Human

Product Synonyms

Dysferlin

Observed Mol Wt

237kDa

Alternative Names

MMD1; FER1L1; LGMD2B; LGMDR2; Dysferlin (Romeo)

Immunogen (Antigen)

synthetic peptide

Format

Liquid

Buffer Formulation

0.05% BSA, 50% glycerol, PBS with 0.02% sodium azide, pH7.3

Reactivity

Human

Uniprot ID

8291

Gene ID

O75923

Potency (Clone Number)

ARC2178

Purification

Antigen-specific affinity chromatography followed by Protein A affinity chromatography

Usage

For Research Use Only. Not for diagnostics or human use.

Shelf Life

12 months at time of shipping

Shipping

Shipped in Dry Ice at -20 Degree Celsius

Storage

Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody.

Research Areas

Cell Biology, Developmental Biology, Immunology

KD/KO Validated

KD Validated

Disclaimer

The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use.

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