BAIT
MBNL1
EXP, EXP35, EXP40, EXP42, MBNL
muscleblind-like splicing regulator 1
GO Process (6)
GO Function (4)
GO Component (5)
Gene Ontology Biological Process
Gene Ontology Molecular Function
Gene Ontology Cellular Component
Homo sapiens
PREY
BIN1
AMPH2, AMPHL, SH3P9
bridging integrator 1
GO Process (6)
GO Function (4)
GO Component (10)
Gene Ontology Biological Process
Gene Ontology Molecular Function
Gene Ontology Cellular Component
Homo sapiens
Protein-RNA
An interaction is detected between and protein and an RNA in vitro.
Publication
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) and myotonic dystrophy of type 1 (DM1) or of type 2 (DM2) are caused by the expression of mutant RNAs containing expanded CUG or CCUG repeats, respectively. These mutant RNAs sequester the splicing regulator Muscleblind-like-1 (MBNL1), resulting ... [more]
Nat. Med. Jun. 01, 2011; 17(6);720-5 [Pubmed: 21623381]
Throughput
- Low Throughput
Curated By
- BioGRID