CLN6 Antibody – Rabbit

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: Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 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. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 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.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 15q23

Cellular Component: nucleoplasm; endoplasmic reticulum membrane; nuclear membrane; membrane; intracellular membrane-bound organelle; endoplasmic reticulum; endoplasmic reticulum lumen; integral to membrane

Molecular Function: protein binding; protein homodimerization activity

Biological Process: cholesterol metabolic process; visual perception; glycosaminoglycan metabolic process; positive regulation of proteolysis; lysosomal lumen acidification; protein catabolic process; locomotion during locomotory behavior; ganglioside metabolic process; cellular macromolecule catabolic process

Disease: Ceroid Lipofuscinosis, Neuronal, 6; Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive