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.
Product Name:
Recombinant Human FLNC Protein (His Tag)
SKU:
RPES8742
Size:
20μg, 100μg, 500μg, 1mg
Species:
Human
Synonyms:
ABPL, FIlamin 2, FLN2, FLNC, Filamin C, Filamin C
Tag:
N-His
Sequence:
Thr2519-Pro2725
Expression Host:
E.coli
Accession:
Q14315
Purity:
> 95% as determined by reducing SDS-PAGE.
Endotoxin:
< 10 EU/mg of the protein as determined by the LAL method
Bio-Activity:
Not validated for activity
Form:
Lyophilized powder
Formulation:
Lyophilized from a 0.2 μm filtered solution in PBS with 5% Trehalose and 5% Mannitol.
Storage:
Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
Shipping:
This product is provided as lyophilized powder which is shipped with ice packs.