CLN3 Antibody (PACO43658)
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주문- SKU:
- PACO43658
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
Antibody Name: | CLN3 Antibody (PACO43658) |
Antibody SKU: | PACO43658 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA |
Recommended Dilutions: | |
Species Reactivity: | Human |
Immunogen: | Recombinant Human Battenin protein (1-280AA) |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Purification Method: | Antigen Affinity Purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Background: | Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. |
Synonyms: | Battenin (Batten disease protein) (Protein CLN3), CLN3, BTS |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Mitochondrial; Vesicle; Autophagy; Chaperone; Apoptosis; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 16p12.1 Cellular Component: Golgi apparatus; neuron projection; Golgi stack; mitochondrion; lysosomal membrane; lysosome; endoplasmic reticulum; early endosome; integral to membrane; autophagic vacuole; trans-Golgi network; caveola; lipid raft; Golgi membrane; synaptic vesicle; late endosome; cytoplasm; 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; 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 |
NCBI Summary: | 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 Code: | Q13286 |
NCBI GenInfo Identifier: | 2498243 |
NCBI Gene ID: | 1201 |
NCBI Accession: | Q13286.1 |
UniProt Related Accession: | Q13286 |
Molecular Weight: | |
NCBI Full Name: | Battenin |
NCBI Synonym Full Names: | CLN3 lysosomal/endosomal transmembrane protein, battenin |
NCBI Official Symbol: | CLN3 |
NCBI Official Synonym Symbols: | BTS; BTN1; JNCL |
NCBI Protein Information: | battenin |
UniProt Protein Name: | Battenin |
UniProt Synonym Protein Names: | Batten disease protein; Protein CLN3 |
Protein Family: | Zinc finger protein |
UniProt Gene Name: | CLN3 |
UniProt Entry Name: | CLN3_HUMAN |