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SETX 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. Additionally we are shipping Senataxin Kits (2) and Senataxin Proteins (2) and many more products for this protein.
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The role of senataxin in regulating gene expression on a genome-wide scale in Ataxia (show USP14 Antibodies) oculomotor apraxia 2 neurons is described.
these data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders.
AOA2 with myoclonus associated with mutations in SETX and AFG3L2 (show AFG3L2 Antibodies)
BRCA1/SETX complexes support a DNA repair mechanism that addresses R-loop-based DNA damage at transcriptional pause sites.
Results identify novel genes related to senataxin function in normal and disease states.
genetic variations in the senataxin gene may contribute to Alzheimer's disease pathogenesis in the Taiwanese Han population.
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
Description of a new SETX gene mutation, which when combined with a recognized SETX mutation results in ataxia (show USP14 Antibodies) with oculomotor apraxia type 2.
This study report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia (show USP14 Antibodies) with neuropathy and elevated serum alpha-fetoprotein (show AFP Antibodies).
These data support key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome.
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).
, amyotrophic lateral sclerosis 4
, probable helicase senataxin-like
, SEN1 homolog
, amyotrophic lateral sclerosis 4 protein
, probable helicase senataxin
, amyotrophic lateral sclerosis 4 homolog
, amyotrophic lateral sclerosis 4 protein homolog
, DEAxQ-box helicase
, tRNA splicing endonuclease regulator 1