Disease-gene associations mined from literature

Literature associating MBNL1 and Fuchs' endothelial dystrophy

MBNL1 [ENSP00000282486]

Muscleblind-like splicing regulator 1; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y- 3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues; Belongs to the muscleblind family.

Synonyms:  MBNL1,  MBNL1p,  hMBNL1,  B4DLS5,  B4E233 ...

Linkouts:  STRING  Pharos  UniProt  OMIM