DHCR24

Summary

DHCR24 (24-dehydrocholesterol reductase, HGNC:2859) is a protein-coding gene on chromosome 1p32.3, encoding Delta(24)-sterol reductase (Q15392). Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis.

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.

Source: NCBI Gene 1718 — RefSeq curated summary.

At a glance

• Gene–disease (curated): desmosterolosis (Definitive, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 379 total — 1 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 84
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_014762

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2859
Approved symbol	DHCR24
Name	24-dehydrocholesterol reductase
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0018, seladin-1
Ensembl gene	ENSG00000116133
Ensembl biotype	protein_coding
OMIM	606418
Entrez	1718

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 16 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000371269, ENST00000436604, ENST00000535035, ENST00000647585, ENST00000647912, ENST00000648182, ENST00000648494, ENST00000648641, ENST00000648712, ENST00000648728, ENST00000649769, ENST00000650362, ENST00000907937, ENST00000907938, ENST00000907939, ENST00000907940, ENST00000925399, ENST00000925400, ENST00000925401, ENST00000925402, ENST00000956142, ENST00000956143, ENST00000956144

RefSeq mRNA: 1 — MANE Select: NM_014762 NM_014762

CCDS: CCDS600

Canonical transcript exons

ENST00000371269 — 9 exons

Exon	Start	End
ENSE00000438896	54871350	54871613
ENSE00000772868	54853434	54853612
ENSE00000772869	54854037	54854234
ENSE00000772875	54875942	54876047
ENSE00000814951	54865303	54865446
ENSE00001454824	54886889	54887195
ENSE00003639976	54875093	54875211
ENSE00003720230	54883618	54883773
ENSE00003834716	54849627	54852386

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 99.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 72.0189 / max 1527.8208, expressed in 1747 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12485	65.8786	1732
12487	3.5661	1444
12486	1.8299	1206
12482	0.6504	354
12479	0.0939	25

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.87	gold quality
right adrenal gland cortex	UBERON:0035827	99.79	gold quality
right adrenal gland	UBERON:0001233	99.75	gold quality
adrenal cortex	UBERON:0001235	99.72	gold quality
left adrenal gland	UBERON:0001234	99.71	gold quality
left adrenal gland cortex	UBERON:0035825	99.69	gold quality
adrenal gland	UBERON:0002369	99.37	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.23	gold quality
spinal cord	UBERON:0002240	99.18	gold quality
right lobe of liver	UBERON:0001114	99.09	gold quality
lower lobe of lung	UBERON:0008949	99.06	gold quality
liver	UBERON:0002107	98.96	gold quality
upper leg skin	UBERON:0004262	98.87	gold quality
upper arm skin	UBERON:0004263	98.72	gold quality
mammalian vulva	UBERON:0000997	98.70	gold quality
nipple	UBERON:0002030	98.66	gold quality
pons	UBERON:0000988	98.64	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.52	gold quality
esophagus mucosa	UBERON:0002469	98.51	gold quality
lower esophagus mucosa	UBERON:0035834	98.49	gold quality
skin of abdomen	UBERON:0001416	98.48	gold quality
nasal cavity epithelium	UBERON:0005384	98.35	gold quality
epithelium of bronchus	UBERON:0002031	98.29	gold quality
skin of leg	UBERON:0001511	98.25	gold quality
zone of skin	UBERON:0000014	98.20	gold quality
gingiva	UBERON:0001828	98.19	gold quality
bronchial epithelial cell	CL:0002328	98.15	gold quality
bronchus	UBERON:0002185	98.15	gold quality
tongue squamous epithelium	UBERON:0006919	98.13	gold quality
corpus callosum	UBERON:0002336	98.06	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-81547	yes	1181.14
E-HCAD-1	yes	101.99
E-GEOD-130148	yes	15.72
E-MTAB-9689	no	314.21
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ESR1, KLF5, NR1H2, NR1H3, SP1, SREBF2, THRB

miRNA regulators (miRDB)

96 targeting DHCR24, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728

Literature-anchored findings (GeneRIF, showing 40)

• seladin-1/DHCR24 is modulated by the ACTH/cAMP-driven pathway and its expression is reduced in adrenal cancer (PMID:15001630)
• unanticipated role for Seladin-1, previously implicated in Alzheimer’s disease and cholesterol metabolism, in integrating cellular response to oncogenic and oxidative stress (PMID:15577914)
• High levels of DHCR24 gene expression is associated with melanoma metastases (PMID:15688385)
• seladin-1 has been isolated and found to be down-regulated in brain regions affected by Alzheimer disease–REVIEW (PMID:15954227)
• These original results demonstrate for the first time that seladin-1 is abundantly expressed by stem cells and appear to suggest that reduced expression in AD might be due to an altered pool of multipotent cells. (PMID:16762343)
• DHCR24 gene may be associated with Alzheimer’s disease risk. (PMID:17510943)
• Preliminary results suggest the absence of an association between DHCR24/seladin-1 genotypes and Alzheimer’s disease in the Italian population. (PMID:17579359)
• ablation of DHCR24/seladin-1 prevented apoptosis of primary neurons in a p53-dependent manner (PMID:17984220)
• DHCR24 protects neuroblastoma cells against Abeta toxicity by increasing membrane cholesterol content. (PMID:18194465)
• Seladin-1 may be considered a fundamental mediator of the neuroprotective effects of estrogen. (PMID:18499757)
• the seladin-1 gene is androgen regulated and has a higher level of expression in prostate cancer tissues compared to the normal prostate (PMID:18762779)
• Seladin-1/DHCR24 is an LXR target gene and that LXR may regulate lipid raft formation. (PMID:18815215)
• Results suggest that antiinflammatory effects of HDLs are mediated partly through an upregulation of DHCR24. (PMID:19325144)
• seladin-1 expression and intracellular localization are correlated with both the intensity and nature of ACTH-induced steroidogenesis and resultant oxidative stress. (PMID:19520779)
• seladin-1 downregulation increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis (PMID:19815556)
• DHCR24 is elevated in response to HCV infection and inhibits the p53 stress response by stimulating the accumulation of the MDM2-p53 complex in the cytoplasm and by inhibiting the acetylation of p53 in the nucleus. (PMID:19861417)
• Reduced expression of the enzyme that converts desmosterol into cholesterol, Alzheimer indicator 1 gene (seladin-1/dhcr24), in cortex and cerebellum may underlie increased desmosterol levels in 21 month-old amyloid-beta mutant mice. (PMID:20061631)
• Seladin-1 involvement in proliferation and secretion suggests that its downregulation may be a major mechanism causing prostate cancer evolution. (PMID:20166102)
• Promoter methylation could be involved in the altered pattern of seladin-1 gene expression in adrenal carcinoma. (PMID:20465827)
• DNA methylation and histone acetylation have roles in regulating the promoter region of the human DHCR24 gene (PMID:20568014)
• affected individuals have a homozygous missense mutation in DHCR24 leading to dramatically augmented plasma desmosterol levels. We thus establish a clear consistent phenotype of desmosterolosis (MIM 602398). (PMID:21559050)
• Level of brain amyloid deposition on [(11)C]PiB PET was associated with rs7551288, an intronic SNP in DHCR24, in 103 participants. The minor allele was associated with lower PiB uptake with non-carriers showing higher PiB uptake in frontal regions. (PMID:21901424)
• This study describes Simvastatin modulates the Alzheimer’s disease-related gene seladin-1. (PMID:21987590)
• DHCR24-overexpressed cells were protected from apoptosis in response to oxidative stress, which was accompanied by a decrease in DHCR24 content on the ER and activation of caspase-3. (PMID:22010141)
• a novel role for 24,25EC in cholesterol homeostasis, through its rapid inhibition of cholesterol synthesis at DHCR24. (PMID:22178193)
• Activation of Sp1 by oxidative stress is involved in the promotion of expression of DHCR24 by Hepatitis C virus. (PMID:22431021)
• a gender dependent effect of DHCR24 rs600491 polymorphism on the susceptibility to Alzheimer disease. (PMID:22910610)
• DHCR24 gene expression is regulation by cholesterol availability. (PMID:23050906)
• Inflammation is inhibited in coronary artery endothlial cells by increasing 3beta-hydroxysteroid-Delta24 reductase expression. (PMID:23123430)
• TR-beta and LXR-alpha competitively up-regulate the human Seladin-1 promoter, sharing the same response element, site A. (PMID:23416078)
• Data indicate a mechanism whereby 3beta-hydroxysterol Delta24-reductase (DHCR24) activity is regulated by signaling. (PMID:24363437)
• DHCR24 expression protects neuronal cells from apoptotic cell death induced by endoplasmic reticulum stress. (PMID:24489783)
• In vitro experiments showed that DHCR24 overexpression induced tumor proliferation. (PMID:24562935)
• Data (including data from studies using RNA from post-mortem brain tissue) suggest that expression of DHCR24 is up-regulated in parietal cortex of patients with Huntington’s disease as compared to control subjects. (PMID:24916565)
• physical and functional interaction between DHCR24 and DHCR7 (PMID:25637936)
• DHCR24 auto-antibody represents a potential noninvasive biomarker for hepatitis C virus-related liver disease and may facilitate the diagnosis of PIVKA-II and AFP-negative hepatocellular carcinoma. (PMID:26288822)
• the expanding database of post-translational modifications will be a valuable resource for mapping the topology of membrane-associated proteins, such as DHCR24, that is, flagging cytosolic residues accessible to modifying enzymes such as kinases and ubiquitin ligases. (PMID:27919032)
• The crucial role of the insulin/STAT3/DHCR24/PGR axis in the progression of endometrial carcinoma. (PMID:28112250)
• Study observed decreased methylation at the DHCR24 locus in offspring of women with active pregnancy eating disorders (ED) and increased methylation at the LGALS2 locus in offspring of women with past ED compared to controls. (PMID:29093763)
• Mutation in DHCR24 gene cause desmosterolosis presenting with multiple congenital anomalies with increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. (PMID:29175559)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dhcr24	ENSDARG00000013236
mus_musculus	Dhcr24	ENSMUSG00000034926
rattus_norvegicus	Dhcr24	ENSRNOG00000006787
caenorhabditis_elegans		WBGENE00018718

Protein

Protein identifiers

Delta(24)-sterol reductase — Q15392 (reviewed: Q15392)

Alternative names: 24-dehydrocholesterol reductase, 3-beta-hydroxysterol Delta-24-reductase, Diminuto/dwarf1 homolog, Seladin-1

All UniProt accessions (6): Q15392, A0A0A0MTI1, A0A3B3IRV7, A0A3B3ISR5, A0A3B3IT58, A0A3B3ITT9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis.

Subunit / interactions. Interacts with DHCR7; this interaction regulates DHCR7 activity.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane.

Tissue specificity. Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially lower than in the frontal cortex.

Disease relevance. Desmosterolosis (DESMOS) [MIM:602398] Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Steroid biosynthesis; cholesterol biosynthesis.

Similarity. Belongs to the FAD-binding oxidoreductase/transferase type 4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15392-1	1	yes
Q15392-2	2

RefSeq proteins (1): NP_055577* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006094	Oxid_FAD_bind_N	Domain
IPR016166	FAD-bd_PCMH	Domain
IPR016169	FAD-bd_PCMH_sub2	Homologous_superfamily
IPR036318	FAD-bd_PCMH-like_sf	Homologous_superfamily
IPR040165	Diminuto-like	Family

Pfam: PF01565

Enzyme classification (BRENDA):

• EC 1.3.1.72 — DELTA24-sterol reductase (BRENDA: 12 organisms, 64 substrates, 68 inhibitors, 10 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
4,4’,14ALPHA-TRIMETHYL-5ALPHA-CHOLESTA-8,24-DIEN	0.018–0.109	2
5ALPHA-CHOLESTA-5,24-DIEN-3BETA-OL	0.0026–0.163	2
5ALPHA-CHOLESTA-7,24-DIEN-3BETA-OL	0.037	1
5ALPHA-CHOLESTA-8,24-DIEN-3BETA-OL	0.176	1
CYCLOARTENOL	0.033	1
DESMOSTEROL	26.3	1

Catalyzed reactions (Rhea), 3 shown:

• lanosterol + NADPH + H(+) = 24,25-dihydrolanosterol + NADP(+) (RHEA:33919)
• cholesterol + NADP(+) = desmosterol + NADPH + H(+) (RHEA:36391)
• 5alpha-cholest-8-en-3beta-ol + NADP(+) = zymosterol + NADPH + H(+) (RHEA:36399)

UniProt features (16 total): sequence variant 6, topological domain 2, site 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15392-F1	92.40	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 122–123 (cleavage; by caspase); 383–384 (cleavage; by caspase)

Ligand- & substrate-binding residues (1): 163–175

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6807047	Cholesterol biosynthesis via desmosterol (Bloch pathway)
R-HSA-6807062	Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)
R-HSA-9969901	Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)
R-HSA-191273	Cholesterol biosynthesis

MSigDB gene sets: 471 (showing top): MODULE_93, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, CHIARETTI_T_ALL_REFRACTORY_TO_THERAPY, GOBP_MALE_GENITALIA_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MITSIADES_RESPONSE_TO_APLIDIN_DN, GGGTGGRR_PAX4_03, GTGCCTT_MIR506, SMITH_TERT_TARGETS_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MODULE_120, MUELLER_PLURINET, GOBP_PROTEIN_MATURATION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP

GO Biological Process (19): cholesterol biosynthetic process (GO:0006695), Ras protein signal transduction (GO:0007265), intracellular protein localization (GO:0008104), steroid metabolic process (GO:0008202), negative regulation of cell population proliferation (GO:0008285), response to hormone (GO:0009725), tissue development (GO:0009888), male genitalia development (GO:0030539), plasminogen activation (GO:0031639), obsolete cholesterol biosynthetic process via desmosterol (GO:0033489), obsolete cholesterol biosynthetic process via lathosterol (GO:0033490), amyloid precursor protein catabolic process (GO:0042987), skin development (GO:0043588), membrane organization (GO:0061024), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), cholesterol metabolic process (GO:0008203), sterol metabolic process (GO:0016125), sterol biosynthetic process (GO:0016126)

GO Molecular Function (9): Delta24(24-1) sterol reductase activity (GO:0000246), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628), enzyme binding (GO:0019899), peptide antigen binding (GO:0042605), Delta24-sterol reductase activity (GO:0050614), FAD binding (GO:0071949), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), flavin adenine dinucleotide binding (GO:0050660)

GO Cellular Component (7): Golgi membrane (GO:0000139), nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cholesterol biosynthesis	3
Metabolism of steroids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
steroid metabolic process	2
sterol metabolic process	2
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	2
cellular anatomical structure	2
cytoplasm	2
endomembrane system	2
cholesterol metabolic process	1
sterol biosynthetic process	1
secondary alcohol biosynthetic process	1
small GTPase-mediated signal transduction	1
macromolecule localization	1
lipid metabolic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
response to endogenous stimulus	1
response to chemical	1
anatomical structure development	1
male sex differentiation	1
genitalia development	1
reproductive system development	1
zymogen activation	1
amyloid precursor protein metabolic process	1
animal organ development	1
cellular component organization	1
primary metabolic process	1
lipid biosynthetic process	1
secondary alcohol metabolic process	1
steroid biosynthetic process	1
oxidoreductase activity, acting on the CH-CH group of donors	1
protein binding	1
antigen binding	1
peptide binding	1
flavin adenine dinucleotide binding	1
binding	1
catalytic activity	1
nucleotide binding	1
anion binding	1
Golgi apparatus	1

Protein interactions and networks

STRING

2762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DHCR24	DHCR7	Q9UBM7	906
DHCR24	EVC	P57679	877
DHCR24	RHCE	P18577	869
DHCR24	H3BT10	H3BT10	839
DHCR24	HMGCS1	Q01581	831
DHCR24	SC5D	O75845	811
DHCR24	SQLE	Q14534	810
DHCR24	FDFT1	P37268	794
DHCR24	HSD17B7	P56937	772
DHCR24	HMGCR	P04035	771
DHCR24	INSIG1	O15503	770
DHCR24	MSMO1	Q15800	764
DHCR24	CYP51A1	Q16850	755
DHCR24	NSDHL	Q15738	748
DHCR24	TM7SF2	O76062	739

IntAct

150 interactions, top by confidence:

A	B	Type	Score
IKBKB	CHUK	psi-mi:“MI:0914”(association)	0.960
	PI4KA	psi-mi:“MI:0914”(association)	0.730
SLC12A2	CLGN	psi-mi:“MI:0914”(association)	0.640
APP	LRPPRC	psi-mi:“MI:0914”(association)	0.580
DHCR24	PGRMC1	psi-mi:“MI:0915”(physical association)	0.560
DHCR24	rep	psi-mi:“MI:0915”(physical association)	0.550
atp6v0d_human	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
PSEN1	RPN1	psi-mi:“MI:0914”(association)	0.460
env	PGRMC1	psi-mi:“MI:0914”(association)	0.460
DHCR7	DHCR24	psi-mi:“MI:0915”(physical association)	0.400
DHCR24	FDPS	psi-mi:“MI:0915”(physical association)	0.400
EBP	DHCR24	psi-mi:“MI:0915”(physical association)	0.400
DHCR24	CCR4	psi-mi:“MI:0915”(physical association)	0.370
Nedd1		psi-mi:“MI:0914”(association)	0.350
CKAP5	TACC3	psi-mi:“MI:0914”(association)	0.350
Fbl	COPS8	psi-mi:“MI:0914”(association)	0.350
Atp2a2	ESYT2	psi-mi:“MI:0914”(association)	0.350
Ufl1	PRSS1	psi-mi:“MI:0914”(association)	0.350
Jup		psi-mi:“MI:0914”(association)	0.350
SNCA	SRRM1	psi-mi:“MI:0914”(association)	0.350
GBA1	SCAMP3	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (238): DHCR24 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ATP12A (Affinity Capture-MS), FUNDC2 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), ERAP1 (Affinity Capture-MS), HRAS (Affinity Capture-MS), LUZP1 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), DHCR24 (Affinity Capture-MS)

ESM2 similar proteins: A5GFX0, A6H707, B0BLZ5, B0JZP3, F1QF89, F7B909, O80437, O82427, P0C1Q3, Q0VGK4, Q14849, Q15392, Q16795, Q1LWG4, Q1LZ86, Q24325, Q3UUI3, Q4R5S9, Q4V8A1, Q502J0, Q58DB0, Q5BQE6, Q5R7K0, Q5XI64, Q5XIE1, Q5ZJD8, Q60HC5, Q61542, Q6DHN0, Q6GLL2, Q6NRK8, Q6P9U4, Q6PBN5, Q7L5N7, Q80ZW2, Q8BYI6, Q8N9F7, Q8R2R1, Q8R2Y0, Q8VCH6

Diamond homologs: A0A0A2KMZ4, A0A0C6E5D0, A0A0E3D8N0, A0A0E3D8N6, A0A0U5GQ05, A0A140JWT7, A0A1V6PBT1, A0A2I6PJ02, A0A2S1XB67, B6HNK6, C5FTN2, D4AK47, D7UQ40, E1ACP9, E9F5F1, F4HV09, G2QDQ9, G2QG48, G3XMD0, G4N285, G9N4A4, I1S2K2, I1SB12, P10867, P9WEY2, P9WJF0, P9WJF1, Q15392, Q4WLW6, Q5BQE6, Q60HC5, Q6PW77, Q796Y5, Q8HXW0, Q8VCH6, Q9FZC8, Q9SA89, W6QEK0, A0A023I4D6, A0A075TR33

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SP1	“up-regulates quantity by expression”	DHCR24	“transcriptional regulation”
DHCR24	“up-regulates activity”	DHCR7	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 171 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
SLC-mediated transmembrane transport	12	6.0×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of long-term neuronal synaptic plasticity	6	41.6×	3e-06
amino acid transport	10	21.8×	4e-08
sodium ion transmembrane transport	8	11.4×	2e-04
transport across blood-brain barrier	9	11.3×	5e-05
negative regulation of neuron apoptotic process	9	7.0×	1e-03
positive regulation of cytosolic calcium ion concentration	8	6.5×	6e-03
response to xenobiotic stimulus	10	4.8×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

379 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	4
Uncertain significance	149
Likely benign	150
Benign	41

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
30576	NM_014762.4(DHCR24):c.307C>T (p.Arg103Cys)	Pathogenic
1027890	NM_014762.4(DHCR24):c.958G>T (p.Glu320Ter)	Likely pathogenic
30577	NM_014762.4(DHCR24):c.281G>A (p.Arg94His)	Likely pathogenic
4367	NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser)	Likely pathogenic
4369	NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)	Likely pathogenic

SpliceAI

1316 predictions. Top by Δscore:

Variant	Effect	Δscore
1:54852382:GGAAG:G	acceptor_gain	1.0000
1:54852383:GAAG:G	acceptor_gain	1.0000
1:54852384:AAG:A	acceptor_gain	1.0000
1:54852385:AG:A	acceptor_gain	1.0000
1:54852387:C:CC	acceptor_gain	1.0000
1:54854033:TCA:T	donor_loss	1.0000
1:54854034:CACGT:C	donor_loss	1.0000
1:54854035:A:AC	donor_gain	1.0000
1:54854036:C:CT	donor_gain	1.0000
1:54854036:CG:C	donor_gain	1.0000
1:54854036:CGTG:C	donor_gain	1.0000
1:54854036:CGTGG:C	donor_gain	1.0000
1:54854081:T:TA	donor_gain	1.0000
1:54854230:ATGTC:A	acceptor_gain	1.0000
1:54854231:TGTC:T	acceptor_gain	1.0000
1:54854232:GTC:G	acceptor_gain	1.0000
1:54854233:TC:T	acceptor_gain	1.0000
1:54854234:CC:C	acceptor_gain	1.0000
1:54865442:TTCAG:T	acceptor_gain	1.0000
1:54865444:CAG:C	acceptor_gain	1.0000
1:54871614:C:CC	acceptor_gain	1.0000
1:54875087:ACT:A	donor_loss	1.0000
1:54875088:CT:C	donor_loss	1.0000
1:54875089:TCA:T	donor_loss	1.0000
1:54875090:C:CG	donor_loss	1.0000
1:54875091:A:AC	donor_gain	1.0000
1:54875091:ACCGG:A	donor_loss	1.0000
1:54875092:C:CC	donor_gain	1.0000
1:54875092:C:CG	donor_loss	1.0000
1:54875208:CCCC:C	acceptor_gain	1.0000

AlphaMissense

3391 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:54883716:A:G	W97R	1.000
1:54883716:A:T	W97R	1.000
1:54854154:C:A	K367N	0.999
1:54854154:C:G	K367N	0.999
1:54854158:A:G	L366P	0.999
1:54865314:A:G	W337R	0.999
1:54865314:A:T	W337R	0.999
1:54865315:G:C	F336L	0.999
1:54865315:G:T	F336L	0.999
1:54865317:A:G	F336L	0.999
1:54865335:G:T	R330S	0.999
1:54871550:C:G	A226P	0.999
1:54875127:A:T	V193D	0.999
1:54875950:A:G	L162P	0.999
1:54876043:A:T	V131D	0.999
1:54883681:C:A	K108N	0.999
1:54883681:C:G	K108N	0.999
1:54854098:T:G	D386A	0.998
1:54854156:T:C	K367E	0.998
1:54854161:A:G	L365P	0.998
1:54854173:G:T	P361H	0.998
1:54865317:A:T	F336I	0.998
1:54865321:G:C	S334R	0.998
1:54865321:G:T	S334R	0.998
1:54865323:T:G	S334R	0.998
1:54865334:C:G	R330P	0.998
1:54865416:A:G	W303R	0.998
1:54865416:A:T	W303R	0.998
1:54871561:C:T	G222D	0.998
1:54871570:C:T	G219E	0.998

dbSNP variants (sampled 300 via entrez): RS1000041479 (1:54873681 G>A), RS1000066479 (1:54867837 G>A), RS1000079680 (1:54874909 T>C), RS1000175270 (1:54857719 CAA>C), RS1000278534 (1:54850008 G>A), RS1000430598 (1:54855311 G>A), RS1000431807 (1:54874548 T>G), RS1000493966 (1:54869539 G>A), RS1000524416 (1:54871847 T>C), RS1000598907 (1:54878782 T>C), RS1000699008 (1:54885727 G>A), RS1000722835 (1:54863556 G>A), RS1000773825 (1:54857326 A>G), RS1000826717 (1:54857091 C>T), RS1000842647 (1:54887212 G>A,C,T)

Disease associations

OMIM: gene MIM:606418 | disease phenotypes: MIM:602398, MIM:236750, MIM:181500

GenCC curated gene-disease

Disease	Classification	Inheritance
desmosterolosis	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
desmosterolosis	Definitive	AR

Mondo (3): desmosterolosis (MONDO:0011217), non-immune hydrops fetalis (MONDO:0009369), schizophrenia (MONDO:0005090)

Orphanet (3): Desmosterolosis (Orphanet:35107), Non-immune hydrops fetalis (Orphanet:363999), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

84 total (30 of 84 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000033	Ambiguous genitalia, male
HP:0000061	Ambiguous genitalia, female
HP:0000062	Ambiguous genitalia
HP:0000104	Renal agenesis
HP:0000160	Narrow mouth
HP:0000169	Gingival fibromatosis
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000363	Abnormal earlobe morphology
HP:0000366	Abnormality of the nose
HP:0000369	Low-set ears
HP:0000378	Cupped ear
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000506	Telecanthus
HP:0000639	Nystagmus
HP:0000773	Short ribs

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009780_1	Visceral fat, circulating phospholipid PC(16:0/2:0) and white matter microstructure (shared variance)	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005674	white matter microstructure measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566555	Desmosterolosis (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (3): CHEMBL2331059 (SINGLE PROTEIN), CHEMBL3885502 (PROTEIN FAMILY), CHEMBL4742296 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 2,395 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL3301622	GILTERITINIB	4	2,395

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

13 potent at pChembl≥5 of 16 total, top 13 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.00	IC50	0.1	nM	CHEMBL4164183
9.15	IC50	0.7	nM	CHEMBL352837
8.60	IC50	2.5	nM	CHEMBL4174848
8.54	IC50	2.9	nM	CHEMBL4170755
8.48	IC50	3.3	nM	CHEMBL4164005
8.38	IC50	4.2	nM	CHEMBL4167637
8.26	IC50	5.5	nM	CHEMBL4159728
8.20	IC50	6.3	nM	CHEMBL4164428
6.70	IC50	198	nM	CHEMBL4167452
6.69	IC50	203	nM	CHEMBL4172305
6.37	Kd	432	nM	GILTERITINIB
6.09	IC50	805	nM	CHEMBL4173086
6.08	IC50	823	nM	CHEMBL4162816

PubChem BioAssay actives

13 with measured affinity, of 297 total; 13 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(3S,5S,9R,10S,13R,14R,17R)-17-[(2S)-1-hydroxypropan-2-yl]-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0001	uM
(4R)-4-[(3S,8S,9S,10R,13R,14S,17R)-3-hydroxy-10,13-dimethyl-2,3,4,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]-N,N-dimethylpentanamide	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0007	uM
(3S,8S,9S,10R,13S,14S,17R)-17-[(2S)-1-hydroxypropan-2-yl]-10,13-dimethyl-2,3,4,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0025	uM
(3S,5S,9R,10S,13R,14R,17R)-10,13-dimethyl-17-[(E,2R)-4-(1-methylpyridin-1-ium-4-yl)but-3-en-2-yl]-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol iodide	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0029	uM
[(3S,5S,9R,10S,13R,14R,17R)-17-[(2S)-1-hydroxypropan-2-yl]-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-yl] acetate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0033	uM
[(3S,5S,9R,10S,13R,14R,17R)-17-[(2S)-1-formyloxypropan-2-yl]-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-yl] acetate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0042	uM
[(2S)-2-[(3S,5S,9R,10S,13R,14R,17R)-3-acetyloxy-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]propyl] 2-(dimethylamino)acetate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0055	uM
[(2S)-2-[(3S,5S,9R,10S,13R,14R,17R)-3-acetyloxy-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]propyl] (E)-but-2-enoate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.0063	uM
[(3S,5S,9R,10S,13R,14R,17R)-17-[(2S)-1-aminopropan-2-yl]-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-yl] acetate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.1980	uM
[(2S)-2-[(3S,5S,9R,10S,13R,14R,17R)-3-acetyloxy-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]propyl] (E)-2-methylbut-2-enoate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.2030	uM
Gilteritinib	1424978: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.4320	uM
[(3S,5S,9R,10S,13R,14R,17R)-17-[(2S)-1-(methoxyamino)-1-oxopropan-2-yl]-10,13-dimethyl-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-yl] acetate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.8050	uM
[(3S,5S,9R,10S,13R,14R,17R)-10,13-dimethyl-17-[(2S)-1-(methylamino)-1-oxopropan-2-yl]-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-yl] acetate	1502695: Inhibition of DHCR24-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate incorporation into newly synthesized cholesterol after 24 hrs GC/MS analysis	ic50	0.8230	uM

CTD chemical–gene interactions

126 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects binding, increases reaction, decreases expression, increases abundance	5
bisphenol A	affects expression, decreases expression, increases expression	4
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases oxidation	4
Benzo(a)pyrene	affects methylation, decreases expression	4
Valproic Acid	decreases expression, increases expression	4
Cisplatin	affects expression, increases expression, increases reaction, decreases expression	3
Estradiol	decreases expression, increases expression	3
Silicon Dioxide	decreases expression, increases expression	3
Tobacco Smoke Pollution	decreases expression	3
Cyclosporine	affects cotreatment, affects expression, decreases expression	3
methylselenic acid	decreases reaction, decreases expression	2
perfluorooctane sulfonic acid	decreases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Gold	decreases expression, affects binding	2
Oxygen	decreases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, increases expression	2
Dihydrotestosterone	increases expression, affects expression	2
T-2 Toxin	decreases expression	2
Tunicamycin	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	2
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
febrifugine	decreases expression	1
testosterone enanthate	affects cotreatment, decreases expression	1
lasiocarpine	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
glycidyl methacrylate	decreases expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1

ChEMBL screening assays

10 unique, capped per target: 10 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3539028	Binding	Inhibition of DHCR24 activity in human hepatocytes assessed as increase in desmosterol level per gram of protein by GC-MS analysis (Rvb = 5.5 ug)	Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis. — Drug Metab Dispos

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1C1	Abcam A-431 DHCR24 KO	Cancer cell line	Female

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety