RHBDF2 (E7U2K) Rabbit mAb #26182

Inactive rhomboid factor 2 (RHBDF2), also known as RHBDL6 or iRhom2, is a proteolytically inactive member of the transmembrane family of rhomboid serine protease family (1). Inactive rhomboid family members have been implicated in several physiological and pathophysiological conditions, including wound healing, cancer, neurodegenerative diseases, and inflammatory disorders (reviewed in 2). RHBDF2 facilitates endoplasmic reticulum trafficking of the metalloprotease ADAM17 (also known as TACE) to the membrane, thereby promoting EGF family growth factor and cytokine shedding and signaling (1). Loss of RHBDF2 results in significantly reduced secretion of ligand-mediated secretion of these factors. Inherited dominant mutations in the RHBDF2 gene are the genetic basis for the cancer-susceptibility syndrome tylosis with esophageal cancer (TOC) (3). Elevated expression of RHBDF2 in oral squamous carcinoma is associated with tumor progression and poor patient prognosis (4). The E3 ubiquitin ligase TRIM31 directly targets RHBDF2 and facilitates its proteasomal degradation (5). Hepatocyte specific ablation of TRIM31 facilitates phenotypes of non-alcoholic fatty liver disease (5).