| Description : |
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
53.2 kDa |
| AA Sequence : |
MTEAALVEGQVKLRDGKKWKSRWLV LRKPSPVADCLLMLVYKDKSERIKG LRERSSLTLEDICGLEPGLPYEGLV HTLAIVCLSQAIMLGFDSHEAMCAW DARIRYALGEVHRFHVTVAPGTKLE SGPATLHLCNDVLVLARDIPPAVTG QWKLSDLRRYGAVPSGFIFEGGTRC GYWAGVFFLSSAEGEQISFLFDCIV RGISPTKGPFGLRPVLPDPSPPGPS TVEERVAQEALETLQLEKRLSLLSH AGRPGSGGDDRSLSSSSSEASHLDV SASSRLTAWPEQSSSSASTSQEGPR PAAAQAAGEAMVGASRPPPKPLRPR QLQEVGRQSSSDSGIATGSHSSYSS SLSSYAGSSLDVWRATDELGSLLSL PAAGAPEPSLCTCLPGTVEYQVPTS LRAHYDTPRSLCLAPRDHSPPSQGS PGNSAARDSGGQTSAGCPSGWLGTR RRGLVMEAPQDSEATLPGPAPGEPW EAGGPHAGPPPAFFSACPVCGGLKV NPPPTRTRPLEQKLISEEDLAANDI LDYKDDDDKV |
| 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. |
