Cugbp elav-like family member 6
Cugbp elav-like family member 6 (also known as CELF6) is a protein that in humans is encoded by the CELF6 gene. The protein encoded by this gene is a member of the CELF/BRUNOL protein family. These proteins 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.
Function[edit | edit source]
The CELF6 protein is thought to play a role in the regulation of RNA processing, including alternative splicing. It has been suggested that the protein may be involved in the development and function of the nervous system, although the exact mechanisms are not yet fully understood.
Clinical significance[edit | edit source]
Mutations in the CELF6 gene have been associated with various neurological disorders, including autism spectrum disorder and schizophrenia. Further research is needed to fully understand the role of this gene in these conditions.
See also[edit | edit source]
References[edit | edit source]
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