CLN6 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | CLN6, CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606725; MGI: 2159324; HomoloGene: 9898; GeneCards: CLN6; OMA:CLN6 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[4][5][6]
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.[7] The EGRESS complex is composed of CLN6 and CLN8 proteins.[7] 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.[7]
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