human DHCR7 Over-expression AAV
Category: AAV > Over-Expression
Cat. No: AAV-206932
Availability:
3-5 weeks
Name:
AAV-h-DHCR7
This is an AAV expressing Human DHCR7.
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Viral Details
- Viral Backbone
- Recombinant AAV
- AAV-ITR
- AAV2
- AAV Serotype
- Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids
- Promoter
- CMV (default), or choose from 30 different ubiquitous or cell specific promoter
- Reporter
- none, optional GFP, CFP, YFP, RFP or mCherry
- Storage Buffer
- PBS/5% Glycerol
Gene Details
- Species
- Human
- Gene Symbol
- DHCR7
- Gene Name
- 7-dehydrocholesterol reductase
- Gene ID
- 1717
- Gene Synonyms
- SLOS
- ORF Size
- 1428 bp
- RefSeq#
- BC000054
- Gene Description
- DHCR7 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. DHCR7 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.
- UniGene ID
- Hs.503134
- HGNC ID
- HGNC:2860
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