DISEASES

Disease-gene associations mined from literature

Literature associating MBNL3 and myotonic dystrophy type 1

MBNL3 [ENSP00000359890]

Muscleblind-like splicing regulator 3; 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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction; Zinc fingers CCCH-type

Synonyms:  MBNL3,  MBNL3p,  hMBNL3,  B1AKI2,  B1AKI4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM