Analysis of SEMA4A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0147-LGZ)

Introduction

Also known as: RP35; SEMB; SEMAB; CORD10<br />This gene encodes a member of the signaling protein family of soluble and transmembrane proteins. Signaling proteins are involved in many functions including axon guidance, morphogenesis, oncogenicity and immune regulation. The encoded protein is a monoubiquitous type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing a local signal to designate areas inaccessible to growing axons. It is a T-cell-mediated immune activator that inhibits vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases, including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.