DISEASES

Disease-gene associations mined from literature

Literature associating CELF6 and optic nerve neoplasm

CELF6 [ENSP00000287202]

CUGBP, Elav-like family member 6; 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA; Belongs to the CELF/BRUNOL family.

Synonyms:  CELF6,  CELF6p,  hCELF6,  BRUNOL6,  F6UBL3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM