Analysis of TNFRSF25 Gene (Mutation) in Distal Spinal Muscular Atrophy by RT-qPCR (CAT#: STEM-MT-0074-LGZ)

Introduction

Also known as: DR3; TR3; DDR3; LARD; APO-3; TRAMP; WSL-1; GEF720; WSL-LR; PLEKHG5; TNFRSF12<br />The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation.