SETX Antibody (PACO37494)
- SKU:
- PACO37494
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- Applications:
- IHC
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Description
| Antibody Name: | SETX Antibody (PACO37494) |
| Antibody SKU: | PACO37494 |
| Size: | 50ug |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, IHC |
| Recommended Dilutions: | ELISA:1:2000-1:10000, IHC:1:20-1:200 |
| Species Reactivity: | Human |
| Immunogen: | Recombinant Human Probable helicase senataxin protein (2401-2677AA) |
| Form: | Liquid |
| Storage Buffer: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
| Purification Method: | >95%, Protein G purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
 | Immunohistochemistry of paraffin-embedded human small intestine tissue using PACO37494 at dilution of 1:100. |
| Background: | Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination. Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress. In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage. Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription. Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid, induced apoptosis. |
| Synonyms: | Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin), SETX, ALS4 KIAA0625 SCAR1 |
| UniProt Protein Function: | senataxin: Probable helicase, which may be involved in RNA maturation. Involved in DNA double-strand breaks damage response generated by oxidative stress. Defects in SETX are the cause of spinocerebellar ataxia autosomal recessive type 1 (SCAR1); also known as ataxia-ocular apraxia 2. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha- fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia. Defects in SETX are a cause of amyotrophic lateral sclerosis type 4 (ALS4). ALS4 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. ALS4 is a childhood- or adolescent- onset form characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Belongs to the DNA2/NAM7 helicase family. 3 isoforms of the human protein are produced by alternative splicing.Protein type: EC 3.6.1.-; Helicase; EC 3.6.4.-; NucleolusChromosomal Location of Human Ortholog: 9q34.13Cellular Component: nucleoplasm; nuclear chromosome; growth cone; axon; cytoplasm; nucleolus; nucleusMolecular Function: protein binding; DNA helicase activity; DNA binding; ATP bindingBiological Process: circadian rhythm; fibroblast growth factor receptor signaling pathway; MAPKKK cascade; positive regulation of RNA splicing; DNA duplex unwinding; RNA processing; mRNA splice site selection; double-strand break repair; protein kinase B signaling cascade; positive regulation of transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; response to DNA damage stimulus; negative regulation of apoptosisDisease: Spinocerebellar Ataxia, Autosomal Recessive 1; Amyotrophic Lateral Sclerosis 4, Juvenile |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q7Z333 |
| NCBI GenInfo Identifier: | 77415498 |
| NCBI Gene ID: | 23064 |
| NCBI Accession: | AAI06018.1 |
| UniProt Secondary Accession: | Q7Z333,O75120, Q3KQX4, Q5JUJ1, Q68DW5, Q6AZD7, Q7Z3J6 Q8WX33, A2A396, B2RPB2 |
| UniProt Related Accession: | Q7Z333 |
| Molecular Weight: | 302,880 Da |
| NCBI Full Name: | SETX protein, partial |
| NCBI Synonym Full Names: | senataxin |
| NCBI Official Symbol: | SETX |
| NCBI Official Synonym Symbols: | ALS4; AOA2; SCAR1; bA479K20.2 |
| NCBI Protein Information: | probable helicase senataxin; SEN1 homolog; amyotrophic lateral sclerosis 4 protein |
| UniProt Protein Name: | Probable helicase senataxin |
| UniProt Synonym Protein Names: | Amyotrophic lateral sclerosis 4 protein; SEN1 homolog |
| Protein Family: | Probable helicase senataxin |
| UniProt Gene Name: | SETX |
| UniProt Entry Name: | SETX_HUMAN |
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