概述
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产品名称重组人HSD3B2蛋白
参阅全部 HSD3B2 蛋白酶 -
蛋白长度Protein fragment
描述
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性质Recombinant
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来源Wheat germ
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氨基酸序列
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Accession
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种属Human
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序列ALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTA CIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYT
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分子量36 kDa including tags
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氨基酸33 to 122
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技术指标
Our Abpromise guarantee covers the use of ab114767 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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应用
ELISA
SDS-PAGE
Western blot
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形式Liquid
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补充说明Protein concentration is above or equal to 0.05 µg/ul.
Best use within three months from the date of receipt of this protein. -
Concentration information loading...
制备和贮存
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稳定性和存储
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.3% Glutathione, 0.79% Tris HCl
常规信息
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别名
- 3 beta HSD adrenal and gonadal type
- 3 beta HSD II
- 3 beta HSD type II
see all -
功能3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
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组织特异性Expressed in adrenal gland, testis and ovary.
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通路Lipid metabolism; steroid biosynthesis.
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疾病相关Defects in HSD3B2 are the cause of adrenal hyperplasia type 2 (AH2) [MIM:201810]. AH2 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late onset (NC or LOAH), and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.
Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormon hypersecretion. -
序列相似性Belongs to the 3-beta-HSD family.
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细胞定位Endoplasmic reticulum membrane. Mitochondrion membrane.
- Information by UniProt
图片
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SDS-PAGE - HSD3B2 protein (ab114767)12.5% SDS-PAGE Stained with Coomassie Blue showing ab114767 at approximately 35.53kDa.
文献
ab114767 has not yet been referenced specifically in any publications.
客户评价及客户问答
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"