Mouse Filamin C Gamma ELISA Kit | FLNC elisa kit
Mouse Filamin C Gamma ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Uniprot Description
FLNC: Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers. Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5). A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy. Defects in FLNC are the cause of myopathy distal type 4 (MPD4). MPD4 is a slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation. Belongs to the filamin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 7q32-q35
Cellular Component: focal adhesion; costamere; cytoskeleton; cytoplasm; plasma membrane; Z disc; cytosol; sarcoplasm; sarcolemma
Molecular Function: actin filament binding; protein binding; cytoskeletal protein binding; ankyrin binding
Biological Process: muscle fiber development
Disease: Myopathy, Myofibrillar, 5; Myopathy, Distal, 4
Research Articles on FLNC
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Product Notes
The Mouse FLNC flnc (Catalog #AAA071335) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA071335 ELISA Kit recognizes Mouse FLNC. It is sometimes possible for the material contained within the vial of "Filamin C Gamma, 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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