CLN8
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[1][2]
Molecular biology
[edit | edit source]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.[3] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.[3] 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.[4]
Clinical
[edit | edit source]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.
References
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Further reading
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External links
[edit | edit source]- GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
- Human CLN8 genome location and CLN8 gene details page in the UCSC Genome Browser.
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