CLN6
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[1][2][3]
The CLN6 protein is part of the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), which recruits lysosomal enzymes at the endoplasmic reticulum to promote their transfer to the Golgi complex.[4] The EGRESS complex is composed of CLN6 and CLN8 proteins.[4] Loss-of-function mutations in CLN6 result in inefficient export of lysosomal enzymes from the endoplasmic reticulum and diminished levels of the enzymes at the lysosome.[4]
See also
[edit | edit source]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 CLN6 genome location and CLN6 gene details page in the UCSC Genome Browser.
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