Human ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ELISA Kit | CLN8 elisa kit
Human Protein CLN8, CLN8 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
Uniprot Description
CLN8: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8). A form of neuronal ceroid lipofuscinosis with onset in childhood. 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 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE). A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.
Protein type: Endoplasmic reticulum; Membrane protein, multi-pass; Cell development/differentiation; Apoptosis; Membrane protein, integral
Chromosomal Location of Human Ortholog: 8p23
Cellular Component: endoplasmic reticulum membrane; ER-Golgi intermediate compartment membrane; mitochondrion; endoplasmic reticulum; ER-Golgi intermediate compartment; integral to membrane
Biological Process: mitochondrial membrane organization and biogenesis; lipid biosynthetic process; photoreceptor cell maintenance; adult walking behavior; age-dependent response to oxidative stress; neuromuscular process controlling posture; negative regulation of transferase activity; visual perception; neurofilament cytoskeleton organization and biogenesis; somatic motor neuron differentiation; phospholipid metabolic process; ceramide biosynthetic process; protein catabolic process; neuromuscular process controlling balance; associative learning; negative regulation of proteolysis; cholesterol metabolic process; nervous system development; glutamate uptake during transmission of nerve impulse; social behavior; lipid transport; lysosome organization and biogenesis; retina development in camera-type eye; cellular protein catabolic process; musculoskeletal movement; ceramide metabolic process; regulation of cell size; negative regulation of apoptosis
Disease: Ceroid Lipofuscinosis, Neuronal, 8; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Research Articles on CLN8
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Product Notes
The Human CLN8 cln8 (Catalog #AAA9325310) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9325310 ELISA Kit recognizes Human CLN8. It is sometimes possible for the material contained within the vial of "ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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