CLN6 Antibody (PACO23411)
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주문- SKU:
- PACO23411
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
Antibody Name: | CLN6 Antibody (PACO23411) |
Antibody SKU: | PACO23411 |
Size: | 100ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB, IHC |
Recommended Dilutions: | ELISA:1:2000-1:10000, WB:1:500-1:3000, IHC:1:50-1:100 |
Species Reactivity: | Human |
Immunogen: | Synthesized peptide derived from internal of human CLN6. |
Form: | Liquid |
Storage Buffer: | Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. |
Purification Method: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Western blot analysis of extracts from HeLa cells, using CLN6 antibody. | |
Immunohistochemistry analysis of paraffin-embedded human cervix tissue using CLN6 antibody. |
Background: | This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. |
Synonyms: | ceroid-lipofuscinosis neuronal protein 6; |
UniProt Protein Function: | CLN6: Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6). 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 lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A). An adult-onset 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. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. |
UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Membrane protein, integral Chromosomal Location of Human Ortholog: 15q23 Cellular Component: endoplasmic reticulum; endoplasmic reticulum lumen; endoplasmic reticulum membrane; integral to membrane; membrane Molecular Function:protein binding; protein homodimerization activity Biological Process: cellular macromolecule catabolic process; cholesterol metabolic process; ganglioside metabolic process; glycosaminoglycan metabolic process; locomotion during locomotory behavior; lysosomal lumen acidification; positive regulation of proteolysis; protein catabolic process; visual perception Disease: Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive; Ceroid Lipofuscinosis, Neuronal, 6 |
NCBI Summary: | This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] |
UniProt Code: | Q9NWW5 |
NCBI GenInfo Identifier: | 8923532 |
NCBI Gene ID: | 54982 |
NCBI Accession: | NP_060352.1 |
UniProt Secondary Accession: | Q9NWW5,Q6IAB1, Q96SR0, A8K560, B4DDH6, |
UniProt Related Accession: | Q9NWW5 |
Molecular Weight: | 39,484 Da |
NCBI Full Name: | ceroid-lipofuscinosis neuronal protein 6 |
NCBI Synonym Full Names: | ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
NCBI Official Symbol: | CLN6 |
NCBI Official Synonym Symbols: | nclf; CLN4A; HsT18960 |
NCBI Protein Information: | ceroid-lipofuscinosis neuronal protein 6 |
UniProt Protein Name: | Ceroid-lipofuscinosis neuronal protein 6 |
Protein Family: | Ceroid-lipofuscinosis neuronal protein |
UniProt Gene Name: | CLN6 |
UniProt Entry Name: | CLN6_HUMAN |