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🧬 基因注释:HNRNPC

📝 官方信息

官方名称:heterogeneous nuclear ribonucleoprotein C

功能摘要:This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
🏥 关联疾病
intellectual developmental disorder, autosomal dominant 74
(0.483)
dengue disease
(0.371)
complex neurodevelopmental disorder
(0.370)
neurodegenerative disease
(0.358)
genetic disorder
(0.192)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接