Human Battenin (BTS) ELISA Kit | BTS elisa kit

Human Battenin (BTS) ELISA Kit

Cat. Num. AAA9300101

• Gene Names: CLN3; BTS; JNCL
• Reactivity: Human
• Synonyms: Battenin (BTS); Human Battenin (BTS) ELISA Kit; BTS elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 109698601
• NCBI GeneID: 1201
• NCBI Accession #: NP_001035897.1
• NCBI GenBank Nucleotide #: NM_001042432.1
• UniProt Accession #: Q13286; O00668; Q549S9; Q9UP09; Q9UP11; Q9UP12; Q9UP13; Q9UP14; B2R7J1
• Molecular Weight: 47,623 Da
• NCBI Official Full Name: battenin
• NCBI Official Synonym Full Names: ceroid-lipofuscinosis, neuronal 3
• NCBI Official Symbol: CLN3
• NCBI Official Synonym Symbols: BTS; JNCL
• NCBI Protein Information: battenin; batten disease protein
• UniProt Protein Name: Battenin
• Protein Family: Zinc finger protein
• UniProt Gene Name: CLN3
• UniProt Synonym Gene Names: BTS
• UniProt Entry Name: CLN3_HUMAN

NCBI Description

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]

Uniprot Description

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

Chromosomal Location of Human Ortholog: 16p12.1

Cellular Component: Golgi apparatus; neuron projection; Golgi stack; 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; negative regulation of proteolysis; amino acid metabolic process; receptor-mediated endocytosis; regulation of action potential; cytosolic calcium ion homeostasis; vacuolar transport; arginine transport; globoside metabolic process; galactosylceramide metabolic process; lysosome organization and biogenesis; ionotropic glutamate receptor signaling pathway; negative regulation of catalytic activity; lysosomal lumen acidification; protein processing; ceramide metabolic process; negative regulation of apoptosis

Disease: Ceroid Lipofuscinosis, Neuronal, 3