Protein CLN8; CLN8; C8orf61

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

Polyclonal

Rabbit Ig

Rabbit

This CLN8 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 251-280 amino acids from the C-terminal region of human CLN8.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.45 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-CLN8 antibody 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.

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.

Metabolism; Neuroscience; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

CLN8 Antibody (C-term) western blot analysis in HL-60 cell line lysates (35ug/lane).This demonstrates the CLN8 antibody detected the CLN8 protein (arrow).

32787

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

Chromosomal Location of Human Ortholog: 8p23

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

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; cellular protein catabolic process; lysosome organization and biogenesis; retina development in camera-type eye; 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

Reinhardt, K., et al. Clin. Genet. 77(1):79-85(2010)
Vantaggiato, C., et al. Hum. Mutat. 30(7):1104-1116(2009)
Kousi, M., et al. Brain 132 (PT 3), 810-819 (2009) :
Striano, P., et al. Epilepsy Behav 10(1):187-191(2007)
Hermansson, M., et al. J. Neurochem. 95(3):609-617(2005)

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