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Beschreibung

Ceroid-lipofuscinosis neuronal protein 6 (UniProt: Q9NWW5, also known as CLN6) is encoded by the CLN6 gene (Gene ID: 54982) in human. CLN6 is a multi-pass membrane protein that is localized to endoplasmic reticulum and contributes to lysosomal function and viability of neurons. It has no homology with known proteins or functional domains, however it is highly conserved across mammalian species. Mutations in CLN6 gene have been linked to ceroid lipofuscinosis, neuronal 6 and 4A that are characterized by intracellular accumulation of autofluorescent liposomal material, seizures, dementia, visual loss, and/or cerebral atrophy. Two isoforms of CLN6 have been described that are produced by alternative splicing.