RBM8A

RBM8A

A gene on chromosome 1q21.1 that encodes a protein with a conserved RNA-binding motif, which is found predominantly in the nucleus and preferentially associated with mRNAs produced by splicing—e.g., nuclear mRNAs and newly exported cytoplasmic mRNAs. The protein is thought to be associated with spliced mRNAs as a tag to indicate the presence of introns. Previously, it was thought that two genes, RBM8A and RBM8B, encoded this protein; the RBM8A locus is now thought to be a pseudogene.
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TAR syndrome is the result of noncoding single nucleotide polymorphisms located in the 5'UTR region or the first intron of the gene RBM8A and also because of microdeletion of chromosome 1q21.1 region with an additional as yet unknown modifier.