CLN6

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

CLN6, Transmembrane ER Protein

Cellular macromolecule catabolic process Source: Ensembl
Cholesterol metabolic process Source: UniProtKB
Ganglioside metabolic process Source: UniProtKB
Glycosaminoglycan metabolic process Source: UniProtKB
Locomotion involved in locomotory behavior Source: Ensembl
Lysosomal lumen acidification Source: UniProtKB
Lysosome organization Source: GO_Central
Positive regulation of proteolysis Source: UniProtKB
Protein catabolic process Source: UniProtKB
Visual perception Source: Ensembl

Endoplasmic reticulum membrane; Endoplasmic reticulum

Ceroid lipofuscinosis, neuronal, 6 (CLN6):
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Ceroid lipofuscinosis, neuronal, 4A (CLN4A):
An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.