Recombinant Human FLNC protein (His tag) (RPES8742)

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SKU:
RPES8742
Product Type:
Protein
Size:
20μg, 100μg, 500μg, 1mg
Tag:
N-His
Expression Host:
E.coli
Host Species:
Human
Application Area:
Structural & ECM Proteins

Description

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Recombinant Human FLNC Protein (His Tag) (RPES8742)

FLNC is a 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-disks in muscle cells. Defects in FLNC are the cause of autosomal dominant filaminopathy. Myofibrillar myopathy (MFM) is a neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. Autosomal dominant filaminopathy is a form of MFM characterized by morphological features of MFM and clinical features of a limb-girdle myopathy. A heterozygous nonsense mutation which segregates with the disease, has been identified in the FLNC gene.

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