Time to visit the BEACH: Emerging roles of BEACH proteins in human diseases
Dr. Christian Bindesbøll, postdoc in the Autophagy group, Institute of Basic Medical Sciences, UiO
The BEACH domain is an unusual and unique domain that is highly conserved in nine human proteins; the BEACH protein family. Mutations in distinct BEACH protein family members cause several human diseases, yet their cellular functions are poorly defined. We and others have shown that some BEACH domain proteins are involved in various trafficking and membrane events, including lysosome size, autophagy, apoptosis and granule size. New functions of selected BEACH family members will be presented. Understanding the specific roles of the different BEACH proteins may help to shed light on the pathology of the diseases they are involved in and have clinical potential.