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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DHCR24 Gene

protein-coding GIFtS: 63
GCID: GC01M055315

24-dehydrocholesterol reductase

Explore 23 diseases affiliated with
DHCR24 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
24-Dehydrocholesterol Reductase¹ ² ³		SELADIN1²
KIAA0018¹ ³ ⁵		Delta(24)-Sterol Reductase²
Seladin-1³		Desmosterol-To-Cholesterol Enzyme²
Diminuto/Dwarf1 Homolog² ³		Seladin 1²
3-Beta-Hydroxysterol Delta-24-Reductase² ³		Selective AD Indicator 1²
3 Beta-Hydroxysterol Delta 24-Reductase²		EC 1.3.1.72³
DCE²		Seladin-1³
Nbla03646²

External Ids:	HGNC: 2859¹	Entrez Gene: 1718²	Ensembl: ENSG00000116133⁷	OMIM: 606418⁵	UniProtKB: Q15392³

Export aliases for DHCR24 gene to outside databases

Previous GC identifers: GC01M055152 GC01M054217 GC01M054659 GC01M054685 GC01M055027 GC01M053429

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for 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)

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392

Function: Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative

stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta

peptide-induced apoptosis

Gene Wiki entry for DHCR24 (24-dehydrocholesterol reductase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DHCR24 gene promoter:
AhR AREB6 Pax-5 AML1a p53 GCNF Pax-4a Arnt
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): DHCR24 promoter sequence

Search SABiosciences Chromatin IP Primers for DHCR24

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DHCR24

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3 Ensembl cytogenetic band: 1p32.3 HGNC cytogenetic band: 1p32.3

DHCR24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHCR24 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M055315: view genomic region (about GC identifiers)

Start:	55,315,300 bp from pter	End:	55,352,921 bp from pter
Size:	37,622 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392 (See protein sequence)

Recommended Name: Delta(24)-sterol reductase precursor

Size: 516 amino acids; 60101 Da

Cofactor: FAD

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane;

Single-pass membrane protein

Sequence caution: Sequence=BAA02806.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: D3DQ51 Q9HBA8

Explore the universe of human proteins at neXtProt for DHCR24: NX_Q15392

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15392

DHCR24 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055577.1

ENSEMBL proteins:

ENSP00000360316 ENSP00000416585 ENSP00000440191 ENSP00000439852

Reactome Protein details: Q15392
Human Recombinant Protein Products:

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	Uscn Proteins for DHCR24

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	IDA	15577914
GO:0005737	cytoplasm	--	--
GO:0005783	endoplasmic reticulum	IDA	11007892

DHCR24 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for DHCR24

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DHCR24 for domains About GeneDecksing

3 InterPro domains/families:

IPR016166 FAD-bd_2

IPR016169 CO_DH_flavot_FAD-bd_sub2

IPR006094 Oxid_FAD_bind_N

Graphical View of Domain Structure for InterPro Entry Q15392

ProtoNet protein and cluster: Q15392

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392

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

Similarity: Contains 1 FAD-binding PCMH-type domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392

Function: Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative

stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta

peptide-induced apoptosis

Catalytic activity: 5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 5-alpha-cholesta-7,24-dien-3-beta-ol + NADPH

Enzyme Number (IUBMB): EC 1.3.1.72¹

miRNA Products:		miRTarBase miRNAs that target DHCR24: hsa-mir-124 (MIRT002577)

		OriGene 3'-UTR Clone: DHCR24 Browse MicroRNA Expression Plasmids
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		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate DHCR24 (see all 34):
		hsa-miR-345 hsa-miR-642a hsa-miR-631 hsa-miR-1914* hsa-miR-486-3p hsa-miR-3921 hsa-miR-124 hsa-miR-532-5p

		SwitchGear 3'UTR luciferase reporter plasmid: DHCR24 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR24

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008762	UDP-N-acetylmuramate dehydrogenase activity	IEA	--
GO:0016614	oxidoreductase activity, acting on CH-OH group of donors	--	--
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA	11519011
GO:0019899	enzyme binding	IPI	15577914
GO:0042605	peptide antigen binding	IPI	15577914

DHCR24 for ontologies About GeneDecksing

Animal Models:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Dhcr24):

adipose tissue	endocrine/exocrine gland	growth/size	homeostasis/metabolism	integument
mortality/aging	reproductive system

DHCR24 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

cholesterol biosynthesis III (via desmosterol)

	cholesterol biosynthesis III (via desmosterol)	1.00			cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	1.00
	cholesterol biosynthesis I	1.00			Steroid biosynthesis	0.60

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Cholesterol biosynthesis

Cholesterol biosynthesis

1.00

superpathway of cholesterol biosynthesis

0.81

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Tryptophan metabolism

Tryptophan metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for DHCR24

Glucose / Energy Metabolism

5 BioSystems Pathways for DHCR24

	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis I
	cholesterol biosynthesis III (via desmosterol)
	Tryptophan metabolism
	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)

3 Reactome Pathways for DHCR24

	Metabolism
	Cholesterol biosynthesis
	Metabolism of lipids and lipoproteins

2 Kegg Pathways (Kegg details for DHCR24):

	Steroid biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392

Pathway: Steroid biosynthesis; cholesterol biosynthesis

DHCR24 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DHCR24

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/28 Interacting proteins for DHCR24 (Q15392³ ENSP00000360316⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TP53	P04637³, ENSP00000269305⁴	I2D: score=3 STRING: ENSP00000269305
MDM2	Q00987³	I2D: score=1
CEL	ENSP00000361151⁴	STRING: ENSP00000361151
CYP51A1	ENSP00000003100⁴	STRING: ENSP00000003100
DHCR7	ENSP00000347717⁴	STRING: ENSP00000347717

About this table

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006695	cholesterol biosynthetic process	TAS	--
GO:0006915	apoptotic process	NAS	11007892
GO:0006979	response to oxidative stress	IEP	11007892
GO:0007050	cell cycle arrest	NAS	15577914
GO:0007265	Ras protein signal transduction	IEA	--

DHCR24 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DHCR24 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DHCR24

10/20 HMDB Compounds for DHCR24 (see all 20) About this table

Compound	Synonyms	CAS #	PubMed Ids
24,25-Dihydrolanosterol		79-62-9	--
24-Methylenecholesterol	(3b)-Ergosta-5,24(28)-dien-3-ol (see all 8)	474-63-5	--
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol	14-demethyllanosterol (see all 11)	7448-02-4	--
4,4-Dimethyl-5a-cholesta-8-en-3b-ol	4,4-Dimethyl-5alpha-cholesta-8-en-3beta-ol;4,4-dimethylcholesta-8(9)-en-3beta-ol (see all 6)	--	--
5a-Cholest-8-en-3b-ol	5alpha-Cholest-8(9)-en-3beta-ol (see all 7)	566-97-2	--
5a-Cholesta-7,24-dien-3b-ol	5alpha-Cholesta-7,24-dien-3beta-ol (see all 2)	651-54-7	--
7-Dehydrocholesterol	(-)-7-dehydrocholesterol (see all 26)	434-16-2	--
7-Dehydrodesmosterol	Cholesta-5,7,24-trien-3beta-ol (see all 2)	1715-86-2	--
Avenasterol	Isofucosterol (see all 10)	481-14-1	--
Beta-Sitosterol	(-)-b-Sitosterol (see all 34)	83-46-5	--

6 Novoseek chemical compound relationships for DHCR24 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3beta-hydroxysterol	96.1	8	15688385 (1), 11519011 (1), 15001630 (1), 18768664 (1) (see all 5)
desmosterol	95.6	26	12457401 (3), 19520779 (2), 17094431 (1), 16762343 (1) (see all 12)
cholesterol	60.8	42	17984220 (3), 15688385 (2), 18394665 (2), 17510943 (2) (see all 19)
sterol	58.3	5	17984220 (1), 11519011 (1), 12457401 (1), 19283968 (1)
steroid	34.8	1	20166102 (1)
estrogen	7.91	8	15585566 (3), 18499757 (3), 15954227 (2)

Search CenterWatch for drugs/clinical trials and news about DHCR24 / DHC24

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DHCR24 gene:

NM_014762.3

Unigene Cluster for DHCR24:

24-dehydrocholesterol reductase

Hs.498727 [show with all ESTs]

Unigene Representative Sequence: NM_014762

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000371269(uc010ooi.1 uc010ooj.1 uc010ook.1 uc001cyc.1)

ENST00000436604 ENST00000535035 ENST00000537443

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		hsa-miR-345 hsa-miR-642a hsa-miR-631 hsa-miR-1914* hsa-miR-486-3p hsa-miR-3921 hsa-miR-124 hsa-miR-532-5p

		SwitchGear 3'UTR luciferase reporter plasmid: DHCR24 3' UTR sequence

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Additional cDNA sequence:

AB073391.1 AF261758.1 AK298414.1 AK302774.1 AK304302.1 AK304421.1 AK304437.1 AK316419.1

AK316427.1 BC004375.1 BC011669.2 D13643.3

24/45 DOTS entries (see all 45):

DT.95228106 DT.100885748 DT.100885752 DT.449037 DT.91882207 DT.100885762 DT.95344396 DT.121395022

DT.91773850 DT.95272537 DT.100885753 DT.100885751 DT.121395011 DT.121395026 DT.121394969 DT.100885756

DT.121394983 DT.121394986 DT.121395028 DT.91773843 DT.99976414 DT.100885733 DT.121394960 DT.121395002

24/894 AceView cDNA sequences (see all 894):

BU859061 BE747340 BM697138 BU146312 BQ925619 BF036279 BU845434 BE899158

BP351432 BG674142 BM742163 BM807076 BU148531 BC011669 BU191126 BE271712

BM564431 BM470423 BF981105 AU125049 BE745944 BQ932425 H62693 BQ647401

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for DHCR24 About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13
SP1:											-		-																-
SP2:
SP3:													-
SP4:											-
SP5:							-				-		-

ECgene alternative splicing isoforms for DHCR24

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DHCR24 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCCGTGGC

About this image

DHCR24 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Somite

Thoracic Ventrolateral Dermomyotome Lip

Muscle Progenitor Cells

Skeletal Muscle

Brain

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (A scalable, suspensi...)

See DHCR24 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DHCR24

SOURCE GeneReport for Unigene cluster: Hs.498727

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392

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

SABiosciences Expression via Pathway-Focused PCR Arrays including DHCR24:

Oxidative Stress in human mouse rat

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Apoptosis 384HT in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR24

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR24 gene from 8/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dhcr24^{1 , 5}	24-dehydrocholesterol reductase^{1, 5}	91.34(n)¹ 96.9(a)¹		4 (49.67 cM)⁵ 74754¹ NM_053272.2¹ NP_444502.2¹ 106561038⁵
chicken (Gallus gallus)	Aves	DHCR24¹	24-dehydrocholesterol reductase	76.16(n) 78.29(a)		424661 NM_001031288.1 NP_001026459.1
lizard (Anolis carolinensis)	Reptilia	DHCR24⁶	--	77(a)	1 ↔ 1	4(104392748-104405193)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX747895.1²	--	79.31(n)		BX747895.1
zebrafish (Danio rerio)	Actinopterygii	dhcr24¹	24-dehydrocholesterol reductase	73.64(n) 79.46(a)		494102 NM_001008645.1 NP_001008645.1
worm (Caenorhabditis elegans)	Secernentea	F52H2.6^{1 , 3}	Protein F52H2.6¹	49(a) (best of 2)³ 53.27(n)¹ 50.51(a)¹		X(2595110-2596223)³ 186134¹ NM_076062.2¹ NP_508463.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	DWF1¹	cell elongation protein DIMINUTO	52.52(n) 43.27(a)		821519 NM_001203008.1 NP_001189937.1
rice (Oryza sativa)	Liliopsida	Os.7216²	Oryza sativa (japonica cultivar-group) putative Cell more	73.76(n)		NM_196346.1

ENSEMBL Gene Tree for DHCR24 (if available)
TreeFam Gene Tree for DHCR24 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DHCR24 gene

1 SIMAP similar gene for DHCR24 using alignment to 4 protein entries: DHC24_HUMAN (see all proteins):

Nbla03646

DHCR24 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for DHCR24
PGOHUM00000232835

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74455673^1,2	C,F,	--	53429047(+)	`TGACAG/ATGATA`	1	--	ds500¹		1	EA	120
rs115017311^1,2	C,F,	--	53429369(+)	`AATCAC/AACACC`	1	--	ut3¹		1	WA	118
rs10299^1,2	C,F,H,	--	53429648(-)	`CAGTCT/CTCTTA`	1	--	ut3¹ ese³		5	MN NS WA	912
rs74072034^1,2	C,	--	53429727(+)	`CCAAGC/TCCCGG`	1	--	ut3¹		2	WA	120
rs11555500^1,2	C,F,	--	53429846(-)	`CAGTGC/ACATTG`	1	--	ut3¹		1	NA	120
rs74496507^1,2		--	53430134(+)	`CTTCAA/GTGACT`	1	--	ut3¹		2	CSA WA	120
rs8990^1,2	C,F,A,	--	53430323(-)	`NNNNAC/TGGAAA`	1	--	ut3¹ ese³		3	MN WA NA	422
rs113651566^1,2		--	53430387(+)	`GTAGCG/AATGTG`	1	--	ut3¹		1	CSA	2
rs78471979^1,2		--	53430563(+)	`AGATTC/TGGGTT`	1	--	ut3¹		1	NA	120
rs79299252^1,2	C,F,	--	53430867(+)	`ATGCTG/ATCCAC`	1	--	ut3¹		1	EA	120

HapMap Linkage Disequilibrium report for DHCR24 (55315300 - 55352921 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DHCR24
1 Indel: 59930
Human Gene Mutation Database (HGMD): DHCR24

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DHCR24 for disorders           About GeneDecksing

OMIM gene information: 606418
OMIM disorders: 602398
UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392

Defects in DHCR24 are the cause of desmosterolosis (DESMOS) [MIM:602398]. It is a rare autosomal recessive

disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol

in plasma, tissue, and cultured cells

20/23 diseases for DHCR24 (see all 23): About MalaCards

desmosterolosis adrenal gland cancer cholesterol alzheimer's disease

patent ductus arteriosus corpus callosum pituitary adenoma metabolic disorders

hepatitis c adenoma spasticity neurodegeneration

lung cancer prostate cancer hepatitis neuroblastoma

prostatitis tuberculosis thyroiditis melanoma

1 disease from the University of Copenhagen DISEASES database for DHCR24:

Alzheimer's disease

4 Novoseek disease relationships for DHCR24 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
desmosterolosis	93.7	8	11519011 (2), 16410790 (2), 12457401 (1), 19597241 (1)
alzheimers disease	69	19	19597241 (2), 17984220 (1), 19815556 (1), 16762343 (1) (see all 13)
adenoma	10.7	1	16091489 (1)
cancer	0	1	16455181 (1)

Human Genome Epidemiology (HuGE) Navigator: DHCR24 (5 documents)

Export disorders for DHCR24 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DHCR24 gene, integrated from 9 sources (see all 69):
(articles sorted by number of sources associating them with DHCR24)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (PubMed id 11519011)^{1, 2, 3, 9} Waterham H.R.... Wanders R.J.A. (2001)
The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. (PubMed id 11007892)^{1, 2, 9} Greeve I.... Nitsch R.M. (2000)
The membrane topological analysis of 3 {beta}-hydroxysteroid-delta24 reductase (DHCR24) on endoplasmic reticulum. (PubMed id 22010141)^{1, 2} Lu X.... Gao B. (2011)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)^{1, 2} Nomura N.... Tabata S. (1994)
24-dehydrocholesterol reductase/seladin-1: a key prot ein differentially involved in adrenocorticotropin effects observed in human an d rat adrenal cortex. (PubMed id 19520779)^{1, 9} Battista M.C....Gallo-Payet N. (2009)
DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis. (PubMed id 15688385)^{1, 9} Di Stasi D....Rodolfo M. (2005)
Prosurvival effect of DHCR24/Seladin-1 in acute and chronic responses to oxidative stress. (PubMed id 17984220)^{1, 9} Kuehnle K....Mohajeri M.H. (2008)
Inhibition of DHCR24/seladin-1 impairs cellular homeo stasis in prostate cancer. (PubMed id 20166102)^{1, 9} Battista M.C....Gallo-Payet N. (2010)
Down-regulation of seladin-1 increases BACE1 levels a nd activity through enhanced GGA3 depletion during apoptosis. (PubMed id 19815556)^{1, 9} SarajAorvi T....Hiltunen M. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1718	HGNC: 2859	AceView: DHCR24	Ensembl:ENSG00000116133	euGenes: HUgn1718
ECgene: DHCR24	Kegg: 1718	H-InvDB: DHCR24

(According to HUGE)
About This Section

HUGE: KIAA0018

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DHCR24	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DHCR24	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DHCR24

Intellectual Property for DHCR24 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DHCR24 gene:
Search GeneIP for patents involving DHCR24

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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24-dehydrocholesterol reductase

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DHCR24 Gene

24-dehydrocholesterol reductase

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