Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% 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