DISEASES

Disease-gene associations mined from literature

Literature on CELF5

CELF5 [ENSP00000292672]

CUGBP Elav-like family member 5; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Synonyms:  CELF5,  CELF5p,  hCELF5,  B4DFI3,  K7ES14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM