SpliceAtlasDB
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🧬 基因注释:RNPC3

📝 官方信息

官方名称:RNA binding region (RNP1, RRM) containing 3

功能摘要:Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
🏥 关联疾病
isolated growth hormone deficiency, type 5
(0.717)
neurodegenerative disease
(0.526)
dentures
(0.462)
Decreased response to growth hormone stimulation test
(0.453)
isolated growth hormone deficiency type IB
(0.453)
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🔗 外部数据库链接