ceroid-lipofuscinosis; neuronal 3; CLN3; BATTENIN; BTS; JNCL; MGC102840

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

Polyclonal

IgG

Rabbit

Antigen Affinity Purified

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

Small volumes of anti-CLN3 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.

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)

37,969 Da[Similar Products]

ceroid-lipofuscinosis, neuronal 3

battenin; batten disease protein

Battenin

BTS??[Similar Products]

CLN3_HUMAN

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

CLN3: Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. Defects in CLN3 are the cause of neuronal ceroid lipofuscinosis type 3 (CLN3); also known as Batten disease. 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3. Belongs to the battenin family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Autophagy; Mitochondrial; Membrane protein, integral; Chaperone; Apoptosis; Membrane protein, multi-pass; Vesicle

Chromosomal Location of Human Ortholog: 16p12.1

Cellular Component: Golgi apparatus; Golgi stack; neuron projection; mitochondrion; endoplasmic reticulum; lysosomal membrane; lysosome; early endosome; integral to membrane; autophagic vacuole; trans-Golgi network; caveola; lipid raft; Golgi membrane; synaptic vesicle; cytoplasm; late endosome; plasma membrane; integral to endoplasmic reticulum membrane; nucleus

Molecular Function: protein binding; unfolded protein binding

Biological Process: sphingomyelin metabolic process; autophagic vacuole fusion; macroautophagy; glucosylceramide metabolic process; negative regulation of macroautophagy; amyloid precursor protein catabolic process; neurotransmitter metabolic process; vesicle transport along microtubule; protein catabolic process; negative regulation of neuron apoptosis; neuromuscular process controlling balance; associative learning; amino acid metabolic process; negative regulation of proteolysis; regulation of action potential; receptor-mediated endocytosis; cytosolic calcium ion homeostasis; vacuolar transport; arginine transport; globoside metabolic process; galactosylceramide metabolic process; ionotropic glutamate receptor signaling pathway; lysosome organization and biogenesis; negative regulation of catalytic activity; lysosomal lumen acidification; protein processing; ceramide metabolic process; negative regulation of apoptosis

Disease: Ceroid Lipofuscinosis, Neuronal, 3

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