Analysis of BARD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1510-LGZ)

Introduction

Official Full Name: BRCA1 associated RING domain 1
This gene encodes a protein that interacts with the N-terminal region of BRCA1. In addition to being able to bind BRCA1 in vivo and in vitro, it also has homology to two of the most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence present in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant proto-oncogenes. The protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by oncogenic amino acid substitutions in BRCA1, implying that stable complex formation between these proteins may be an important aspect of BRCA1 tumor suppression. This protein may be the target of cancer-causing mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.