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  • 產(chǎn)品名稱：DHCR7抗原（重組蛋白）

  • 產(chǎn)品型號(hào)：1mg
  • 產(chǎn)品廠商：通蔚生物
  • 產(chǎn)品價(jià)格：3580
  • 產(chǎn)品庫存：35
  • 產(chǎn)品文檔：
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詳情介紹：
中文名稱： DHCR7抗原（重組蛋白）

英文名稱： DHCR7 Antigen (Recombinant Protein)

別     名：  SLOS

儲(chǔ)     存：  冷凍（-20℃）

相關(guān)類別： 抗原

概     述：

Fusion protein corresponding to a region derived from 61-153 amino acids of human DHCR7

技術(shù)規(guī)格

Full name:

7-dehydrocholesterol reductase

Synonyms:

SLOS

Swissprot:

Q9UBM7

Gene Accession:

BC000054

Purity:

>85%, as determined by Coomassie blue stained SDS-PAGE

Expression system:

Escherichia coli

Tags:

His tag C-Terminus, GST tag N-Terminus

Background:

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.





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