Name: DHCR7抗原（重組蛋白）
Brand: 通蔚生物

中文名稱： DHCR7抗原（重組蛋白）

英文名稱： DHCR7 Antigen (Recombinant Protein)

別名： SLOS

儲存： 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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