Disease-gene associations mined from literature

Literature associating CELF3 and learning disability

CELF3 [ENSP00000290583]

Trinucleotide repeat-containing gene 4 protein; RNA-binding protein involved 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. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Synonyms:  CELF3,  CELF3p,  hCELF3,  B4DQL3,  Q5SZQ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM