Gene Symbol | CELF1 |
Entrez Gene ID | 10658 |
Full Name | CUGBP Elav-like family member 1 |
Synonyms | BRUNOL2,CUG-BP,CUGBP,CUGBP1,EDEN-BP,NAB50,NAPOR,hNab50 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. |
Disorder MIM: |