Human Senataxin (SETX) ELISA Kit | SETX elisa kit
Human Senataxin (SETX) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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.-; Nucleolus
Chromosomal Location of Human Ortholog: 9q34.13
Cellular Component: nucleoplasm; nuclear chromosome; growth cone; axon; cytoplasm; nucleolus; nucleus
Molecular Function: protein binding; DNA helicase activity; DNA binding; ATP binding
Biological 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 apoptosis
Disease: Spinocerebellar Ataxia, Autosomal Recessive 1; Amyotrophic Lateral Sclerosis 4, Juvenile
Research Articles on SETX
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Product Notes
The Human SETX setx (Catalog #AAA9313363) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9313363 ELISA Kit recognizes Human SETX. It is sometimes possible for the material contained within the vial of "Senataxin (SETX), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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