| Description : |
This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
41 kDa |
| AA Sequence : |
MAVSVTPIRDTKWLTLEVCREFQRG TCSRPDTECKFAHPSKSCQVENGRV IACFDSLKGRCSRENCKYLHPPPHL KTQLEINGRNNLIQQKNMAMLAQQM QLANAMMPGAPLQPVPMFSVAPSLA TNASAAAFNPYLGPVSPSLVPAEIL PTAPMLVTGNPGVPVPAAAAAAAQK LMRTDRLEVCREYQRGNCNRGENDC RFAHPADSTMIDTNDNTVTVCMDYI KGRCSREKCKYFHPPAHLQAKIKAA QYQVNQAAAAQAAATAAAMGIPQAV LPPLPKRPALEKTNGATAVFNTGIF QYQQALANMQLQQHTAFLPPGSILC MTPATSVVPMVHGATPATVSAATTS ATSVPFAATATANQIPIISAEHLTS HKYVTQMTRTRPLEQKLISEEDLAA NDILDYKDDDDKV |
| 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. |
