靶标:
RBM8A
产品别名:
BOV-1A; BOV-1B; BOV-1C; C1DELq21.1; DEL1q21.1; MDS014; RBM8; RBM8B; TAR; Y14; ZNRP; ZRNP1; RBM8A; RNA binding motif protein 8A; RNA binding motif protein 8A; RNA-binding protein 8A; BOV-1; RNA binding motif protein 8B; RNA-binding protein Y14; binder of OVCA1; binder of OVCA1-1; ribonucleoprotein RBM8; ribonucleoprotein RBM8A;
背景信息:
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],