Analysis of FBXO11 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1786-LGZ)

Introduction

Official Full Name: F-box protein 11<br />Also known as: UBR6; VIT1; FBX11; PRMT9; IDDFBA; UG063H01<br />This gene encodes a member of the F-box protein family, characterized by an approximately 40 amino acid motif, F-box. F-box proteins constitute one of the four subunits of the ubiquitin-protein ligase complex SCFs (SKP1-cullin-F-box) and function in phosphorylation-dependent ubiquitination. F-box proteins were classified into 3 classes: Fbws containing the WD-40 domain, Fbws containing leucine-rich repeats, and Fbxs containing different protein interaction modules or without recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can act as an arginine methyltransferase to symmetrically dimethylate arginine residues, and act as an adapter protein to mediate p53-like modification, thereby inhibiting the function of p53. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.