| Description : |
The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
64.7 kDa |
| AA Sequence : |
MSEHSRNSDQEELLDEEINEDEILA NLSAEELKELQSEMEVMAPDPSLPV GMIQKDQTDKPPTGNFNHKSLVDYM YWEKASRRMLEEERVPVTFVKSEEK TQEEHEEIEKRNKNMAQYLKEKLNN EIVANKRESKGSSNIQETDEEDEEE EDDDDDDEGEDDGEESEETNREEEG KAKEQIRNCENNCQQVTDKAFKEQR DRPEAQEQSEKKISKLDPKKLALDT SFLKVSTRPSGNQTDLDGSLRRVRK NDPDMKELNLNNIENIPKEMLLDFV NAMKKNKHIKTFSLANVGADENVAF ALANMLRENRSITTLNIESNFITGK GIVAIMRCLQFNETLTELRFHNQRH MLGHHAEMEIARLLKANNTLLKMGY HFELPGPRMVVTNLLTRNQDKQRQK RQEEQKQQQLKEQKKLIAMLENGLG LPPGMWELLGGPKPDSRMQEFFQPP PPRPPNPQNVPFSQRSEMMKKPSQA PKYRTDPDSFRVVKLKRIQRKSRMP EAREPPEKTNLKDVIKTLKPVPRNR PPPLVEITPRDQLLNDIRHSSVAYL KPVQLPKELATRTRPLEQKLISEED LAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
