Analysis of RPL5 Gene (Mutation) in Diamond-Blackfan anemia by RT-qPCR (CAT#: STEM-MT-0116-LGZ)

Introduction

Also known as: L5; uL18; MSTP030; PPP1R135<br />The ribosome is an organelle that catalyzes protein synthesis and consists of a small 40S subunit and a large 60S subunit. These subunits consist of four RNAs and about 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and a component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called 5S ribonucleoprotein particle (RNP), which is required for the transport of non-ribosome-associated cytoplasmic 5S rRNA to nucleosomes for assembly into ribosomes. The encoded protein may also inhibit tumorigenesis by activating downstream tumor suppressors and downregulating oncoprotein expression. Mutations in this gene have been found in patients with Diamond-Blackfan anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21 located on its fifth intron. As a typical gene encoding ribosomal proteins, multiple processing pseudogenes of this gene are scattered throughout the genome.