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.[7] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.[7] CLN8 proteins pair with CLN6 proteins to form the (ER-to-Golgi relaying of enzymes of the lysosomal system), the functional unit responsible for the export of lysosomal enzymes from the endoplasmic reticulum.[8]
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.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Oct 1999). "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8". Nat Genet. 23 (2): 233–6. doi:10.1038/13868. PMID10508524. S2CID23920094.
Ranta S, Lehesjoki AE (2001). "Northern epilepsy, a new member of the NCL family". Neurol. Sci. 21 (3 Suppl): S43–7. doi:10.1007/s100720070039. PMID11073227. S2CID11677694.
Winter E, Ponting CP (2002). "TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?". Trends Biochem. Sci. 27 (8): 381–3. doi:10.1016/S0968-0004(02)02154-0. PMID12151215.
Ranta S, Topcu M, Tegelberg S, et al. (2004). "Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy". Hum. Mutat. 23 (4): 300–5. doi:10.1002/humu.20018. PMID15024724. S2CID34924032.