CLN8
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[5][6]
| CLN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CLN8, C8orf61, EPMR, ceroid-lipofuscinosis, neuronal 8, transmembrane ER and ERGIC protein, CLN8 transmembrane ER and ERGIC protein, TLCD6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607837; MGI: 1349447; HomoloGene: 10340; GeneCards: CLN8; OMA:CLN8 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[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 EGRESS complex (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.
