Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.

Molecular biology

This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum (ER) and recycles between the ER and the Golgi apparatus via COPII- and COPI-coated vesicles. CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER. CLN8 proteins pair with CLN6 proteins to form the E****GRESS complex (ER-to-Golgi r****elaying of enzymes of the lysosomal system), the functional unit responsible for the export of lysosomal enzymes from the endoplasmic r****eticulum.

Clinical

Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.