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 exp... See more...

Aliases for DHCR24 Gene

Aliases for DHCR24 Gene

  • 24-Dehydrocholesterol Reductase 2 3 4 5
  • Delta(24)-Sterol Reductase 2 3 4
  • Seladin-1 2 3 4
  • Desmosterol-To-Cholesterol Enzyme 2 3
  • Diminuto/Dwarf1 Homolog 3 4
  • KIAA0018 2 4
  • 3 Beta-Hydroxysterol Delta 24-Reductase 3
  • 3-Beta-Hydroxysterol Delta-24-Reductase 4
  • Selective AD Indicator 1 3
  • EC 1.3.1.72 4
  • Nbla03646 3
  • Seladin 1 3
  • SELADIN1 3
  • DHCR24 5
  • DCE 3

External Ids for DHCR24 Gene

Previous HGNC Symbols for DHCR24 Gene

  • DCE

Previous GeneCards Identifiers for DHCR24 Gene

  • GC01M055152
  • GC01M054217
  • GC01M054659
  • GC01M054685
  • GC01M055027
  • GC01M055315
  • GC01M053429

Summaries for DHCR24 Gene

Entrez Gene Summary for DHCR24 Gene

  • 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]

GeneCards Summary for DHCR24 Gene

DHCR24 (24-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR24 include Desmosterolosis and Alzheimer Disease. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot Summary for DHCR24 Gene

  • 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).

Gene Wiki entry for DHCR24 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHCR24 Gene

Genomics for DHCR24 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHCR24 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHCR24 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHCR24

Top Transcription factor binding sites by QIAGEN in the DHCR24 gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • GCNF
  • p53
  • Pax-4a
  • Pax-5

Genomic Locations for DHCR24 Gene

Genomic Locations for DHCR24 Gene
chr1:54,849,627-54,887,195
(GRCh38/hg38)
Size:
37,569 bases
Orientation:
Minus strand
chr1:55,315,300-55,352,921
(GRCh37/hg19)
Size:
37,622 bases
Orientation:
Minus strand

Genomic View for DHCR24 Gene

Genes around DHCR24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHCR24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHCR24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHCR24 Gene

Proteins for DHCR24 Gene

  • Protein details for DHCR24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15392-DHC24_HUMAN
    Recommended name:
    Delta(24)-sterol reductase
    Protein Accession:
    Q15392
    Secondary Accessions:
    • B7Z817
    • D3DQ51
    • Q9HBA8

    Protein attributes for DHCR24 Gene

    Size:
    516 amino acids
    Molecular mass:
    60101 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Interacts with DHCR7; this interaction regulates DHCR7 activity.
    SequenceCaution:
    • Sequence=BAA02806.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DHCR24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHCR24 Gene

Post-translational modifications for DHCR24 Gene

  • Ubiquitination at Lys254, Lys301, Lys313, Lys367, Lys376, Lys492, Lys496, and Lys509
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DHCR24 Gene

Domains & Families for DHCR24 Gene

Gene Families for DHCR24 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DHCR24 Gene

Suggested Antigen Peptide Sequences for DHCR24 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53870, highly similar to 24-dehydrocholesterol reductase (EC1.3.1.-) (B7Z817_HUMAN)
  • cDNA FLJ53131, highly similar to 24-dehydrocholesterol reductase (EC 1.3.1.-) (B7Z943_HUMAN)
  • Seladin-1 (DHC24_HUMAN)
  • cDNA, FLJ79326, highly similar to 24-dehydrocholesterol reductase (EC 1.3.1.-) (Q3LIE7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15392

UniProtKB/Swiss-Prot:

DHC24_HUMAN :
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Family:
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
genes like me logo Genes that share domains with DHCR24: view

Function for DHCR24 Gene

Molecular function for DHCR24 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol + NADP(+) = cholesta-5,24-dien-3beta-ol + H(+) + NADPH; Xref=Rhea:RHEA:36391, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:17737, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.72; Evidence={ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:21671375, ECO:0000269|PubMed:25637936};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + lanosterol + NADPH = 24,25-dihydrolanosterol + NADP(+); Xref=Rhea:RHEA:33919, ChEBI:CHEBI:15378, ChEBI:CHEBI:16521, ChEBI:CHEBI:28113, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:22178193};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-8-en-3beta-ol + NADP(+) = 5alpha-cholesta-8,24-dien-3beta-ol + H(+) + NADPH; Xref=Rhea:RHEA:36399, ChEBI:CHEBI:15378, ChEBI:CHEBI:16608, ChEBI:CHEBI:18252, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.72; Evidence={ECO:0000250|UniProtKB:Q8VCH6};.

Enzyme Numbers (IUBMB) for DHCR24 Gene

Phenotypes From GWAS Catalog for DHCR24 Gene

Gene Ontology (GO) - Molecular Function for DHCR24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000246 delta24(24-1) sterol reductase activity IBA,IMP 11519011
GO:0005515 protein binding IPI 25637936
GO:0016491 oxidoreductase activity IEA --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IBA,IDA 11519011
GO:0019899 enzyme binding IPI 15577914
genes like me logo Genes that share ontologies with DHCR24: view
genes like me logo Genes that share phenotypes with DHCR24: view

Human Phenotype Ontology for DHCR24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHCR24 Gene

MGI Knock Outs for DHCR24:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHCR24

No data available for Transcription Factor Targets and HOMER Transcription for DHCR24 Gene

Localization for DHCR24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHCR24 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Golgi apparatus membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHCR24 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
golgi apparatus 4
cytoskeleton 3
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DHCR24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IDA 15577914
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IEA,IDA 11007892
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with DHCR24: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DHCR24 Gene

Pathways & Interactions for DHCR24 Gene

genes like me logo Genes that share pathways with DHCR24: view

UniProtKB/Swiss-Prot Q15392-DHC24_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

SIGNOR curated interactions for DHCR24 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DHCR24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IMP,ISS --
GO:0006915 apoptotic process NAS 11007892
GO:0006979 response to oxidative stress IEP 11007892
genes like me logo Genes that share ontologies with DHCR24: view

Drugs & Compounds for DHCR24 Gene

(7) Drugs for DHCR24 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Approved, Investigational Pharma Agonist 0
FAD Approved Pharma 0
beta-Sitosterol Experimental Pharma 0
Lanosterin Experimental Pharma 0
NADP Experimental Pharma 0

(19) Additional Compounds for DHCR24 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
desmosterol
  • 24-Dehydrocholesterol
  • 3beta-Cholesta-5,24-dien-3-ol
  • Cholesta-5,24-dien-3beta-ol
  • 3b-Cholesta-5,24-dien-3-ol
  • 3β-cholesta-5,24-dien-3-ol
313-04-2
24,25-dihydrolanosterol
  • Lanostenol
  • (3beta,20S)-Isomer OF lanostenol
  • (3beta,5XI,14xi)-isomer OF lanostenol
  • 5 alpha-Lanost-8-en-3 beta-ol
79-62-9
24-Methylenecholesterol
  • (3b)-Ergosta-5,24(28)-dien-3-ol
  • 24-Methylencholesterol
  • 24-Methylene-cholesterol
  • Chalinasterol
  • Ergosta-5, 24(28)-dien-3b-ol
474-63-5
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,24-dien-3-ol
  • 14-Demethyllanosterol
  • 4,4-Dimethyl-5 alpha -cholesta-8,24-dien-3 beta -ol
  • 4,4-Dimethyl-5-alpha-cholesta-(8,24)-dien-3-beta-ol
  • 4,4-Dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol
7448-02-4
4,4-Dimethyl-5a-cholesta-8-en-3b-ol
  • 3beta-Hydroxy-4,4-dimethyl-8(9)-cholestene
  • 3beta-Hydroxy-4,4-dimethylcholest-8(9)-ene
  • 4,4-Dimethyl-3beta-hydroxy-8(9)-cholestene
  • 4,4-Dimethyl-3beta-hydroxycholest-8(9)-ene
  • 4,4-Dimethyl-5alpha-cholesta-8-en-3beta-ol
genes like me logo Genes that share compounds with DHCR24: view

Transcripts for DHCR24 Gene

mRNA/cDNA for DHCR24 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHCR24

Alternative Splicing Database (ASD) splice patterns (SP) for DHCR24 Gene

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

Relevant External Links for DHCR24 Gene

GeneLoc Exon Structure for
DHCR24

Expression for DHCR24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHCR24 Gene

mRNA differential expression in normal tissues according to GTEx for DHCR24 Gene

This gene is overexpressed in Adrenal Gland (x12.3), Liver (x5.5), and Brain - Spinal cord (cervical c-1) (x4.1).

Protein differential expression in normal tissues from HIPED for DHCR24 Gene

This gene is overexpressed in Fetal testis (45.1) and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHCR24 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHCR24

SOURCE GeneReport for Unigene cluster for DHCR24 Gene:

Hs.498727

mRNA Expression by UniProt/SwissProt for DHCR24 Gene:

Q15392-DHC24_HUMAN
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.

Evidence on tissue expression from TISSUES for DHCR24 Gene

  • Nervous system(5)
  • Liver(4.9)
  • Bone marrow(4.2)
  • Skin(4.1)
  • Lung(4)
  • Intestine(3.9)
  • Kidney(3.8)
  • Eye(3.5)
  • Adrenal gland(3.4)
  • Stomach(3)
  • Muscle(3)
  • Spleen(2.6)
  • Blood(2.4)
  • Pancreas(2.2)
  • Thyroid gland(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHCR24 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DHCR24: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for DHCR24 Gene

Orthologs for DHCR24 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR24 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DHCR24 30 31
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHCR24 30 31
  • 92.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DHCR24 30 31
  • 91.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dhcr24 30 17 31
  • 91.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhcr24 30
  • 90.83 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DHCR24 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DHCR24 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DHCR24 30 31
  • 76.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DHCR24 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhcr24 30
  • 70.54 (n)
Zebrafish
(Danio rerio)
Actinopterygii dhcr24 30 31
  • 73.64 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F52H2.6 30 31 32
  • 53.27 (n)
OneToOne
Y7A5A.1 32
  • 38 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DWF1 30
  • 52.84 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0397400 30
  • 55.51 (n)
Os.7216 30
Barley
(Hordeum vulgare)
Liliopsida Hv.3024 30
Wheat
(Triticum aestivum)
Liliopsida Ta.28334 30
Corn
(Zea mays)
Liliopsida Zm.6146 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToOne
Species where no ortholog for DHCR24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DHCR24 Gene

ENSEMBL:
Gene Tree for DHCR24 (if available)
TreeFam:
Gene Tree for DHCR24 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHCR24: view image

Paralogs for DHCR24 Gene

(1) SIMAP similar genes for DHCR24 Gene using alignment to 4 proteins:

  • DHC24_HUMAN
  • B7Z817_HUMAN
  • F5H0H1_HUMAN
  • H7C4B7_HUMAN

Pseudogenes.org Pseudogenes for DHCR24 Gene

genes like me logo Genes that share paralogs with DHCR24: view

No data available for Paralogs for DHCR24 Gene

Variants for DHCR24 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHCR24 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
714014 Likely Benign: not provided 54,852,278(-) G/A SYNONYMOUS_VARIANT
719707 Benign: Desmosterolosis; not provided 54,852,262(-) C/T MISSENSE_VARIANT
721523 Likely Benign: not provided 54,854,028(-) C/A INTRON_VARIANT
722330 Benign: not provided 54,854,169(-) C/T SYNONYMOUS_VARIANT
730388 Benign: not provided 54,853,526(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DHCR24 Gene

Structural Variations from Database of Genomic Variants (DGV) for DHCR24 Gene

Variant ID Type Subtype PubMed ID
esv1764339 CNV deletion 17803354
esv2078805 CNV deletion 18987734
esv2676460 CNV deletion 23128226
esv2748375 CNV deletion 23290073
esv2748386 CNV deletion 23290073
esv3577874 CNV loss 25503493
esv3586104 CNV loss 21293372
esv3586105 CNV loss 21293372
esv6509 CNV gain 19470904
esv995636 CNV deletion 20482838
nsv1133854 CNV deletion 24896259
nsv461561 CNV gain 19166990
nsv546266 CNV gain 21841781
nsv817614 CNV gain 22305530
nsv829915 CNV gain 17160897

Variation tolerance for DHCR24 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHCR24 Gene

Human Gene Mutation Database (HGMD)
DHCR24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHCR24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHCR24 Gene

Disorders for DHCR24 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DHCR24 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
desmosterolosis
  • deficiency of 3beta-hydroxysterol delta24-reductase
alzheimer disease
  • ad
progesterone resistance
  • pseudocorpus luteum insufficiency
x-linked chondrodysplasia punctata 2
  • cdpx2
restrictive dermopathy, lethal
  • rd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHC24_HUMAN
  • 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. {ECO:0000269 PubMed:11519011, ECO:0000269 PubMed:21671375}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHCR24

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DHCR24: view

No data available for Genatlas for DHCR24 Gene

Publications for DHCR24 Gene

  1. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (PMID: 11519011) Waterham HR … Wanders RJ (American journal of human genetics 2001) 2 3 4 23
  2. The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. (PMID: 11007892) Greeve I … Nitsch RM (The Journal of neuroscience : the official journal of the Society for Neuroscience 2000) 3 4 23
  3. The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. (PMID: 25637936) Luu W … Brown AJ (Journal of lipid research 2015) 3 4
  4. The membrane topological analysis of 3β-hydroxysteroid-Delta24 reductase (DHCR24) on endoplasmic reticulum. (PMID: 22010141) Lu X … Gao B (Journal of molecular endocrinology 2012) 3 4
  5. The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1). (PMID: 22178193) Zerenturk EJ … Brown AJ (Biochimica et biophysica acta 2012) 3 4

Products for DHCR24 Gene

  • Signalway Proteins for DHCR24

Sources for DHCR24 Gene