| Gene Symbol | RBM8A |
| Entrez Gene ID | 9939 |
| Full Name | RNA binding motif protein 8A |
| Synonyms | BOV-1A,BOV-1B,BOV-1C,C1DELq21.1,DEL1q21.1,MDS014,RBM8,RBM8B,TAR,Y14,ZNRP,ZRNP1 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Thrombocytopenia-absent radius syndrome, 274000 (3) |
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