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🧬 基因注释:RBFOX3

📝 官方信息

官方名称:RNA binding fox-1 homolog 3

功能摘要:This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodegenerative disease
(0.371)
Rolandic epilepsy
(0.336)
self-limited epilepsy with centrotemporal spikes
(0.333)
Abnormality of the skeletal system
(0.311)
autosomal dominant compelling helio-ophthalmic outburst syndrome
(0.307)
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🔗 外部数据库链接