The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Subcellular Location:
Nucleus; Nucleus > nucleolus and Cytoplasm. Nucleus. Either found in the cytoplasm or in the nucleus. Nuclear expression of isoform A seems to be restricted to polyploid trophoblast cells.
DISEASE:
Defects in STOX1 are the cause of pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]; also known as gestational proteinuric hypertension. Preeclampsia is a pregnancy-associated disease with maternal symptoms but placental origin. Unlike most other human disorders, it impacts 2 individuals, the mother and her child, both of whom can be severely affected. The pathological mechanism of PEE4 involves the loss of function of STOX1 in the placenta.
SWISS:
Q6ZVD7
Gene ID:
219736
Database links:
Entrez Gene: 219736 Human
Omim: 609397 Human
SwissProt: Q6ZVD7 Human
Unigene: 37636 Human
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Sample: TESLV1(Human) Cell Lysate at 40 ug
Primary: Anti-STOX1 (SL2565R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 111 kD
Observed band size: 111 kD
Sample: Jar(Human) Cell Lysate at 40 ug
Primary: Anti-STOX1 (SL2565R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 111 kD
Observed band size: 111 kD
Paraformaldehyde-fixed, paraffin embedded (Human kidney tissue); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (STOX1) Polyclonal Antibody, Unconjugated (SL2565R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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