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Dysferlin

Dysferlin 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.

Gene Name: Dysferlin
Synonyms: DYSF, Dysferlin, Fer-1-like protein 1, FER1L1, LGMD2B, MMD1
Target Sequences: NM_003494 NP_003485.1 O75923

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ELISA Kits (2)
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Dysferlin (2)
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Dysferlin ELISA Kit
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Sandwich
96-Well Strip Plate
Human
31.2 - 2000 pg/ml
Colorimetric - 450nm (TMB)
Cell Lysates, Tissue Homogenates
1 Plate/$730
Dysferlin ELISA Kit
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Cell-Based
96-Well Microplate
Mouse, Human
Colorimetric - 450nm (TMB)
Adherent Cell Cultures
1 Plate/$534
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If you do not find the reagent or information you require, please contact Customer.Support@LSBio.com to inquire about additional products in development.

PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).