DHCR24 - 24-dehydrocholesterol reductase Gene

Also Known as DCE; SELADIN1; Nbla03646; seladin-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1718

About DHCR24

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,849,627-54,887,195 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 515.3), liver (RPKM 200.4) and 12 other tissues.

Summary

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]

DHCR24 Products (1)

mRNA	Protein	Name
NM_014762.4	NP_055577.1	delta(24)-sterol reductase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables delta24(24-1) sterol reductase activity	IMP IMP: Inferred from mutant phenotype	11519011	GOA
enables delta24-sterol reductase activity	EXP EXP: Inferred from Experiment	11519011	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	15577914	GOA
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA IDA: Inferred from direct assay	11519011	GOA
enables peptide antigen binding	IPI IPI: Inferred from physical interaction	15577914	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25637936	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	11519011	GOA
involved in cholesterol biosynthetic process via desmosterol	IMP IMP: Inferred from mutant phenotype	11519011	GOA
involved in tissue development	IMP IMP: Inferred from mutant phenotype	12457401	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	11007892	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15577914	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHCR24 Protein Structure

FAD_binding_4

0
100
200
300
400
516 a.a.

Protein Preferred Names	Protein Names
delta(24)-sterol reductase	3 beta-hydroxysterol delta 24-reductase

DHCR24 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DHCR24	Q15392	PGRMC1	Homo sapiens	O00264	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Desmosterolosis	Deficiency Of 3beta-Hydroxysterol Delta24-Reductase DESMOS
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Rh Isoimmunization	Rh Incompatibility Affecting Management Of Mother
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness	Bsnd Sensorineural Deafness With Mild Renal Dysfunction Bartter Disease Type 4a BARTS4A Bartter Syndrome, Type 4a Bartter Syndrome Type 4 Bartter Syndrome, Neonatal, With Sensorineural Deafness Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type 4a Neonatal Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type Iv Bartter Syndrome With Sensorineural Hearing Loss Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness Hyperprostanglandin E Syndrome 4 Hypokalemic Alkalosis With Hypercalciuria Antenatal 4 Infantile Bartter Syndrome With Sensorineural Deafness
Lethal Restrictive Dermopathy	Hyperkeratosis-Contracture Syndrome Tight Skin Contracture Syndrome Tight Skin Contracture Syndrome, Lethal Dermopathy, Restrictive, Lethal
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Blood Group Incompatibility
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-10016	E 2012	Modulator	97.01%	Phase 1

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-143228	SH-42	Inhibitor	99.87%	Unkown
HY-164561	TASIN-30		99.96%	Unkown
HY-148660	SFI003	Inducer	99.75%	Unkown
HY-167709	Azacosterol	Inhibitor	99.85%	Unkown
HY-RS03726	DHCR24 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17385	Dhcr24 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23840	Dhcr24 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DHCR24	VGNC	VGNC:61466
Bos taurus	DHCR24	VGNC	VGNC:28033
Mus musculus	DHCR24	MGD	MGI:1922004
Macaca mulatta	DHCR24	VGNC	VGNC:71791
Rattus norvegicus	DHCR24	RGD	RGD:1306529
Canis familiaris	DHCR24	VGNC	VGNC:39926
Others	DHCR24	NCBI