NCBI and Uniprot Product Information
NCBI Description
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Uniprot Description
myoferlin: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR. Belongs to the ferlin family. 8 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell surface; Membrane protein, integral
Chromosomal Location of Human Ortholog: 10q24
Cellular Component: caveola; cytoplasmic vesicle; cytoplasmic vesicle membrane; integral to membrane; intracellular membrane-bound organelle; nuclear envelope; nuclear membrane; plasma membrane
Molecular Function: phospholipid binding; protein binding
Biological Process: blood circulation; muscle contraction; plasma membrane repair; regulation of vascular endothelial growth factor receptor signaling pathway
Research Articles on MYOF
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Product Notes
The Human MYOF myof (Catalog #AAA2886504) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2886504 ELISA Kit recognizes Human MYOF. It is sometimes possible for the material contained within the vial of "Myoferlin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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