NP_060352.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,919 Da
NCBI Official Full Name
ceroid-lipofuscinosis neuronal protein 6
NCBI Official Synonym Full Names
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
NCBI Protein Information
ceroid-lipofuscinosis neuronal protein 6
UniProt Protein Name
Ceroid-lipofuscinosis neuronal protein 6
UniProt Synonym Gene Names
UniProt Entry Name
CLN6_HUMAN
NCBI Summary for 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]
UniProt Comments for CLN6
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, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 15q23
Cellular Component: nucleoplasm; endoplasmic reticulum membrane; nuclear membrane; membrane; intracellular membrane-bound organelle; endoplasmic reticulum lumen; endoplasmic reticulum; integral to membrane
Molecular Function: protein binding; protein homodimerization activity
Biological Process: cholesterol metabolic process; glycosaminoglycan metabolic process; visual perception; positive regulation of proteolysis; lysosomal lumen acidification; protein catabolic process; cellular macromolecule catabolic process; ganglioside metabolic process; locomotion during locomotory behavior
Disease: Ceroid Lipofuscinosis, Neuronal, 6; Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
Research Articles on CLN6
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Products associated with CLN6 elisa kit
Diseases associated with CLN6 elisa kit
Organs/Tissues associated with CLN6 elisa kit
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