CLN3 cDNA Clone – Ceroid-Lipofuscinosis, Neuronal 3 (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: Chaperone; Vesicle; Mitochondrial; Autophagy; Membrane protein, multi-pass; Apoptosis; Membrane protein, integral

Chromosomal Location of Human Ortholog: 16p12.1

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

Molecular Function: protein binding; unfolded protein binding

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

Disease: Ceroid Lipofuscinosis, Neuronal, 3