CLN3 siRNA – Battenin (Mouse)

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

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

Molecular Function: protein binding; calcium-dependent protein binding

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