Rabbit anti-Human SETX Polyclonal Antibody | anti-SETX antibody
SETX Antibody, Biotin conjugated
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
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: Helicase; EC 3.6.4.-; Nucleolus; EC 3.6.1.-
Chromosomal Location of Human Ortholog: 9q34.13
Cellular Component: axon; chromosome, telomeric region; cytoplasm; growth cone; nuclear chromosome; nucleolus; nucleoplasm; nucleus
Molecular Function: ATP binding; DNA binding; DNA helicase activity; identical protein binding; protein binding
Biological Process: circadian rhythm; DNA duplex unwinding; DNA recombination; double-strand break repair; fibroblast growth factor receptor signaling pathway; MAPKKK cascade; mRNA splice site selection; negative regulation of apoptosis; positive regulation of RNA splicing; positive regulation of transcription from RNA polymerase II promoter; protein kinase B signaling cascade; response to DNA damage stimulus; RNA processing; spermatogenesis; termination of RNA polymerase II transcription; transcription termination
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile; Spinocerebellar Ataxia, Autosomal Recessive 1