SpliceAtlasDB
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🧬 基因注释:RBM8A

📝 官方信息

官方名称:RNA binding motif protein 8A

功能摘要:This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013].

🎯 作为靶基因的剪接因子
🏥 关联疾病
thrombocytopenia-absent radius syndrome
(0.786)
Thrombocytopenia - absent radius
(0.775)
genetic disorder
(0.405)
neurodegenerative disease
(0.308)
Global developmental delay
(0.269)
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🔗 外部数据库链接