ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardatio

Human Protein CLN8 (CLN8) ELISA kit; C8orf61; EPMR; FLJ39417; ceroid-lipofuscinosis; neuronal 8; ceroid-lipofuscinosis; neuronal 8 (epilepsy; progressive with mental retardation)

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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MBS9325310 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing CLN8. The ELISA analytical biochemical technique of the MBS9325310 kit is based on CLN8 antibody-CLN8 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect CLN8 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, CLN8. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

32,787 Da

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

protein CLN8

Protein CLN8

C8orf61  [Similar Products]

CLN8_HUMAN

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]

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; ***** 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

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