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Protein-coding gene in humans
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene .[ 5] [ 6]
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] [ 7] CLN6 proteins to form the EGRESS complex (E R-to-G olgi r elaying of e nzymes of the lys osomal s ystem), the functional unit responsible for the export of lysosomal enzymes from the endoplasmic reticulum .[ 8]
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 .
^ a b c ENSG00000278220 GRCh38: Ensembl release 89: ENSG00000182372, ENSG00000278220 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026317 – Ensembl , May 2017^ "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 . PMID 10508524 . S2CID 23920094 . ^ "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)" .^ a b di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M (2018). "CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis" . Nature Cell Biology . 20 (12): 1370– 1377. doi :10.1038/s41556-018-0228-7 . PMC 6277210 PMID 30397314 . ^ Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M (Jun 2020). "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer" . J Clin Invest . 130 (8): 4118– 4132. doi :10.1172/JCI130955 PMC 7410054 PMID 32597833 .
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