Project 3

Project 3

Sorting and signal-mediated trafficking of the neuronal ceroid lipofuscinosis-related CLN7 membrane protein

Project leader:
PD Dr. Stephan Storch (2012 – 2017)
University Medical Center Hamburg-Eppendorf, Children’s Hospital


The variant form of late infantile neuronal ceroid lipofuscinosis caused by mutations in the CLN7 gene belongs to a group of autosomal recessive inherited neurodegenerative disorders of childhood, which are characterized by lysosomal storage and the selective damage and loss of neurons. The CLN7 gene product is a ubiquitously expressed multispanning lysosomal membrane protein of unknown function. In this project we want to investigate the lysosomal targeting of CLN7 and the importance of potential cytosolic sorting signals in CLN7 and their interacting partners for sequential sorting between subcellular compartments. Methods include expression analyses, interaction studies with clathrin adaptor subunits and hemicomplexes and modern imaging techniques.