CLN8

205526889ENSG00000182372ENSG00000278220ENSMUSG00000026317Q9UBY8Q9QUK3NM_001034061NM_018941NM_012000NP_061764NP_036130Protein CLN8 is a protein that in humans is encoded by the CLN8 gene. Protein CLN8 is a protein that in humans is encoded by the CLN8 gene. 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. 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.