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Rabbit Anti-Steroid sulfatase/FITC Conjugated antibody
background:
The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). [provided by RefSeq, Jul 2008].
Function:
Conversion of sulfated steroid precursors to estrogens during pregnancy.
Subunit:
Homodimer.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Post-translational modifications:
The conversion to 3-oxoalanine (also known as SLCformylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
DISEASE:
Defects in STS are the cause of ichthyosis X-linked (IXL) [MIM:308100]. Ichthyosis X-linked is a keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks.
Similarity:
Belongs to the sulfatase family.
Database links:
Entrez Gene: 412 Human
Omim: 308100 Human
SwissProt: P08842 Human
Unigene: 522578 Human
Unigene: 700558 Human
Unigene: 700559 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
类固醇硫酸酯酶SSDD缺乏，可导致病人的皮肤培养的纤维母细咆、滋养层细胞、外周白细胞、毛球的角化组织、表皮细胞、角质层和甲等变化，见于X连锁鱼鳞病(XLI)。
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