Recombinant Human DYSF Protein, MYC/DDK-tagged

• Cat.No.: DYSF-2773H
• Product Overview: Recombinant Human DYSF protein, fused to MYC/DDK-tagged at C-terminus, was expressed in HEK293.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc&DDK
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 241.2 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Homo sapiens ]
• Official Symbol: DYSF
• Synonyms: FER1L1; LGMD2B; MMD1
• Gene ID: 8291
• mRNA Refseq: NM_001130455
• Protein Refseq: NP_001123927
• MIM: 603009
• UniProt ID: O75923