CELF4 Chromosome 18
CUGBP Elav-like family member 4
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What This Gene Does
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
18q12.2
Ensembl
ENSG00000101489
Associated Conditions (2)
Developmental disorder
Neurodevelopmental disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS561213595 | Health Risk | Conflicting classifications of pathogenicity | Developmental disorder, Neurodevelopmental disorder, Developmental disorder |