Analysis of RBM8A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0364-LGZ)

Introduction

Official Full Name: RNA binding motif protein 8A<br />Also known as: TAR; Y14; RBM8; ZNRP; RBM8B; ZRNP1; BOV-1A; BOV-1B; BOV-1C; MDS014; DEL1q21.1; C1DELq21.1<br />This gene encodes a protein with a conserved RNA-binding motif. This protein is mainly found in the nucleus, but is also present in the cytoplasm. It is preferentially associated with mRNAs generated by splicing, including nuclear mRNAs and newly exported cytoplasmic mRNAs. The protein is thought to remain associated with the spliced mRNA as a marker to indicate where introns are present, thereby coupling pre- and post-splicing events in the mRNA. Previously, it was believed that there were two genes encoding this protein: RBM8A and RBM8B; the RBM8B locus is now considered to be a pseudogene. The gene has two alternating translation initiation codons, resulting in two forms of the protein. Allelic mutations and low frequency noncoding single nucleotide polymorphisms (SNPs) of this gene cause thrombocytopenia-deleted radius (TAR) syndrome.