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DHCR24

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
Full Name
24-Dehydrocholesterol Reductase
Function
Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:25637936, PubMed:22178193).

In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141).

Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892).
Biological Process
Apoptotic process Source: UniProtKB
Cell cycle arrest Source: UniProtKB
Cholesterol biosynthetic process Source: MGI
Cholesterol biosynthetic process via desmosterol Source: UniProtKB
Cholesterol biosynthetic process via lathosterol Source: Reactome
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Regulation of neuron death Source: UniProtKB
Response to oxidative stress Source: UniProtKB
Skin development Source: UniProtKB
Steroid metabolic process Source: GO_Central
Tissue development Source: UniProtKB
Cellular Location
Endoplasmic reticulum membrane; Golgi apparatus membrane
Involvement in disease
Desmosterolosis (DESMOS):
Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Topology
Lumenal: 23-31
Helical: 32-52
Cytoplasmic: 53-516

Anti-DHCR24 antibodies

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Target: DHCR24
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: SL-14
Application*: WB, IC, E
Target: DHCR24
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CBXS-6001
Application*: WB, IP, P
Target: DHCR24
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXS-1259
Application*: WB
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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