background:
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.
Database links:
Entrez Gene: 219736 Human
Omim: 609397 Human
SwissProt: Q6ZVD7 Human
Unigene: 37636 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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