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

Cell Free Expression

Liquid containing glycerol

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of CLN8 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Transmembrane Protein

This is a recombinant transmembrane protein expressed in a cell-free expression system.

32,787 Da

ceroid-lipofuscinosis, neuronal 8

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, integral; Cell development/differentiation; Apoptosis; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 8p23

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; ER-Golgi intermediate compartment; ER-Golgi intermediate compartment membrane; integral to membrane; mitochondrion

Biological Process: ***** walking behavior; age-dependent response to oxidative stress; associative learning; cellular protein catabolic process; ceramide biosynthetic process; ceramide metabolic process; cholesterol metabolic process; glutamate uptake during transmission of nerve impulse; lipid biosynthetic process; lipid transport; lysosome organization and biogenesis; mitochondrial membrane organization and biogenesis; musculoskeletal movement; negative regulation of apoptosis; negative regulation of proteolysis; nervous system development; neurofilament cytoskeleton organization and biogenesis; neuromuscular process controlling balance; neuromuscular process controlling posture; phospholipid metabolic process; photoreceptor cell maintenance; protein catabolic process; regulation of cell size; retina development in camera-type eye; social behavior; somatic motor neuron differentiation; visual perception

Disease: Ceroid Lipofuscinosis, Neuronal, 8; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

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