| Gene Symbol |
MBNL1
|
| Gene Synonyms |
EXP MBNL mKIAA0428 |
| Gene Full Name |
muscleblind like splicing regulator 1 |
| Gene Summary |
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. [provided by RefSeq, Sep 2015] |
| Alternative Names |
35 kDa CUG triplet repeat expansion dsRNA-binding protein C3H type zinc finger protein C3H zinc finger dsRNA-binding protein C3H Zn finger dsRNA binding protein DKFZp686P06174 EXP35 EXP40 EXP42 KIAA0428 muscleblind like splicing factor 1 muscleblind-like muscleblind-like 1 triplet-expansion RNA-binding protein zinc finger protein |
| Molecular Weight(MW) |
41kDa |
| Source |
Rabbit |
| Cellular Localization |
Nucleus;Cytoplasm;Cytoplasmic granule |