CLN8 (CLN8 transmembrane ER and ERGIC protein)

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CLN8 (CLN8 transmembrane ER and ERGIC protein) belongs to the TLC superfamily, with a total of 200 amino acid domains (62-262 aa), covering 5 transmembrane helices. The gene encodes a transmembrane protein, which is located in the endoplasmic reticulum (ER) and circulates between ER and Golgi apparatus through COPII and COPI-coated vesicles. CLN8 protein acts as a freight receptor for lysosomal soluble proteins in the ER. CLN8 deficiency leads to the consumption of soluble enzymes in lysosomes, which weakens the biogenesis of lysosomes. The mutation in the gene is associated with a disease characterized by progressive epilepsy with cognitive impairment (EPMR), a subtype of the neuronal steroid lipid fucose (NCL). Sphingolipid and phospholipid levels changed in the brain of patients with the gene mutation.

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