🧬 基因注释:CELF5
📝 官方信息
官方名称:CUGBP Elav-like family member 5
功能摘要:This gene encodes a member of the the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012].
🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodegenerative disease
(0.517)
lysosomal storage disease
(0.343)
Alzheimer disease
(0.238)