DISEASES

Disease-gene associations mined from literature

Literature associating CELF4 and benign epilepsy with centrotemporal spikes

CELF4 [ENSP00000410584]

CUGBP, Elav-like family member 4; 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. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. 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; Belongs to the CELF/BRUNOL family.

Synonyms:  CELF4,  CELF4p,  hCELF4,  B4DHA8,  CELF4-001 ...

Linkouts:  STRING  Pharos  UniProt