CELF3

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Description

The CELF3 (CUGBP Elav-like family member 3) is a protein-coding gene located on chromosome 1.

CELF3, also known as BRUNOL-1, is an RNA-binding protein involved in regulating pre-mRNA alternative splicing. It influences the inclusion or exclusion of exons in pre-mRNA, which is often dependent on tissue type and developmental stage. Specifically, CELF3 promotes the inclusion of exon 5 in cardiac isoforms of TNNT2 during heart remodeling, transitioning from juvenile to adult stages. It also activates the splicing of MAPT/Tau exon 10. CELF3 binds to muscle-specific splicing enhancer (MSE) intronic sites located adjacent to the alternative exon 5 of TNNT2 pre-mRNA.

CELF3 is also known as BRUNOL1, CAGH4, ERDA4, ETR-1, TNRC4.

Associated Diseases

• male infertility with teratozoospermia due to single gene mutation
• spermatogenic failure 7
• spermatogenic failure 70
• spermatogenic failure 10
• spermatogenic failure 11
• partial chromosome Y deletion
• spermatogenic failure 47
• spermatogenic failure 40
• spermatogenic failure 65
• spermatogenic failure 41
• spermatogenic failure, X-linked, 3
• spermatogenic failure 51
• spermatogenic failure 8
• spermatogenic failure 39
• spermatogenic failure 29
• spermatogenic failure 63
• spermatogenic failure 24
• spermatogenic failure 1
• spermatogenic failure 19
• spermatogenic failure 45
• spermatogenic failure 43
• spermatogenic failure 49