Analysis of PUM1 Gene (Mutation) Hereditary Breast Ovarian Cancer Syndrome by RT-qPCR (CAT#: STEM-MT-0095-LGZ)

Introduction

Also known as: PUMH; HSPUM; PUMH1; PUML1; SCA47
This gene encodes a member of the PUF family, an evolutionarily conserved RNA-binding protein related to the Drosophila Pumilio protein and the Caenorhabditis elegans fem3 mRNA-binding factor protein. The encoded protein contains a sequence-specific RNA-binding domain consisting of eight repeats and N-terminal and C-terminal flanking regions, and acts as a regulator of translation by binding to the 3' untranslated region of specific mRNAs. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that this human protein may be involved in the translational regulation of embryogenesis, cell development and differentiation. Alternately spliced transcript variants encoding different isoforms have been described.