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中文名称： DHCR7抗原（重组蛋白）
英文名称： DHCR7 Antigen (Recombinant Protein)
别 名： SLOS
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
|
Fusion protein corresponding to a region derived from 61-153 amino acids of human DHCR7 |
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Full name: |
7-dehydrocholesterol reductase |
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Synonyms: |
SLOS |
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Swissprot: |
Q9UBM7 |
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Gene Accession: |
BC000054 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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. |
