Rabbit anti-Human SETX Polyclonal Antibody

Uniprot Id

Q7Z333

Target Species

Human

Target Name

SETX

Target Full Name

Probable helicase senataxin

Target Function

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. 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). 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.

Target Involvement

Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1); Amyotrophic lateral sclerosis 4 (ALS4)

Target Subcellular Location

Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Chromosome. Chromosome, telomere. Cell projection, axon. Cell projection, growth cone.

Target Protein Families

DNA2/NAM7 helicase family

Target Tissue Specificity

Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).

Target Synonyms

ALS4; Amyotrophic lateral sclerosis 4 protein; AOA2; bA479K20.2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; Probable helicase senataxin; SCAR1; SEN1 homolog; Setx; SETX_HUMAN