CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.

ABSTRACT: Organelle biogenesis requires proper transport of proteins from their site of synthesis to their target subcellular compartment^1-3. Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and traffic through the Golgi complex before being transferred to the endolysosomal system^4-6, but how they are transferred from the ER to the Golgi is unknown. Here, we show that ER-to-Golgi transfer of lysosomal enzymes requires CLN8, an ER-associated membrane protein whose loss of function leads to the lysosomal storage disorder, neuronal ceroid lipofuscinosis 8 (a type of Batten disease)⁷. ER-to-Golgi trafficking of CLN8 requires interaction with the COPII and COPI machineries via specific export and retrieval signals localized in the cytosolic carboxy term

SUBMITTER: di Ronza A 

PROVIDER: S-EPMC6277210 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature