This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that ... See more...

Aliases for DHCR7 Gene

Aliases for DHCR7 Gene

  • 7-Dehydrocholesterol Reductase 2 3 4 5
  • Delta7-Sterol Reductase 3 4
  • Sterol Reductase SR-2 3 4
  • 7-DHC Reductase 3 4
  • EC 4 51
  • Delta-7-Dehydrocholesterol Reductase 3
  • Putative Sterol Reductase SR-2 3
  • Smith-Lemli-Opitz Syndrome 2
  • Sterol Delta(7)-Reductase 4
  • Sterol Delta-7-Reductase 3
  • EC 1.3.1 51
  • DHCR7 5
  • SLOS 3
  • D7SR 4

External Ids for DHCR7 Gene

Previous HGNC Symbols for DHCR7 Gene

  • SLOS

Previous GeneCards Identifiers for DHCR7 Gene

  • GC11M073477
  • GC11M072685
  • GC11M071368
  • GC11M070871
  • GC11M070823
  • GC11M071145
  • GC11M067439

Summaries for DHCR7 Gene

Entrez Gene Summary for DHCR7 Gene

  • This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

GeneCards Summary for DHCR7 Gene

DHCR7 (7-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR7 include Smith-Lemli-Opitz Syndrome and Holoprosencephaly. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor and 7-dehydrocholesterol reductase activity. An important paralog of this gene is LBR.

UniProtKB/Swiss-Prot Summary for DHCR7 Gene

  • Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Tocris Summary for DHCR7 Gene

  • Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form cholesterol), using NADPH as a cofactor. DHCR is ubiquitously expressed.

Gene Wiki entry for DHCR7 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHCR7 Gene

Genomics for DHCR7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHCR7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J071446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.9 1917 8.7 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 TFE3 SOX13 NADSYN1 DHCR7 ENSG00000254682 NUMA1 HSALNG0085473 SHANK2
GH11J071418 Enhancer 1 Ensembl ENCODE dbSUPER 11.7 +34.2 34185 1.4 TCF12 IKZF2 PKNOX1 EED DPF2 RUNX3 GATAD2B BCL11A IKZF1 NR2F1 NADSYN1 ENSG00000254682 DHCR7 ACTE1P HSALNG0085468 SHANK2
GH11J071487 Enhancer 0.9 Ensembl ENCODE 11.5 -36.1 -36133 2.8 IKZF1 JUND LARP7 RELA IKZF2 SOX6 SCRT2 EED RELB CTBP1 ENSG00000254682 NADSYN1 DHCR7 KRTAP5-9 KRTAP5-8 lnc-DHCR7-1 MIR6754 KRTAP5-7
GH11J071479 Enhancer 0.8 ENCODE 11.5 -28.3 -28340 3.1 CEBPG CREB1 ZBTB33 TARDBP ZHX2 ATF7 SCRT2 HES1 ESR1 ZKSCAN1 ENSG00000254682 NADSYN1 DHCR7 KRTAP5-9 MIR6754 lnc-DHCR7-1 KRTAP5-7
GH11J071500 Enhancer 0.8 Ensembl ENCODE 10.9 -47.9 -47867 0.7 SP1 CTBP1 RCOR1 PKNOX1 ZNF217 GATAD2B MAX NR2F2 MBD2 KLF9 lnc-DHCR7-1 NADSYN1 KRTAP5-9 DHCR7 ENSG00000254682 MIR6754 KRTAP5-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHCR7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHCR7

Top Transcription factor binding sites by QIAGEN in the DHCR7 gene promoter:
  • ATF6
  • GATA-1
  • GATA-2
  • GATA-3
  • HOXA5
  • NF-1
  • NF-1/L
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for DHCR7 Gene

Genomic Locations for DHCR7 Gene
24,676 bases
Minus strand
24,676 bases
Minus strand

Genomic View for DHCR7 Gene

Genes around DHCR7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHCR7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHCR7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHCR7 Gene

Proteins for DHCR7 Gene

  • Protein details for DHCR7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    7-dehydrocholesterol reductase
    Protein Accession:
    Secondary Accessions:
    • B2R6Z2
    • O60492
    • O60717

    Protein attributes for DHCR7 Gene

    475 amino acids
    Molecular mass:
    54489 Da
    Quaternary structure:
    • Interacts with DHCR24; this interaction regulates DHCR7 activity.

neXtProt entry for DHCR7 Gene

Selected DME Specific Peptides for DHCR7 Gene


Post-translational modifications for DHCR7 Gene

  • Ubiquitination at Lys13 and Lys88
  • Modification sites at PhosphoSitePlus

Domains & Families for DHCR7 Gene

Gene Families for DHCR7 Gene

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

Protein Domains for DHCR7 Gene

  • Gamma-crystallin related
  • ERG4/ERG24 ergosterol biosynthesis protein

Suggested Antigen Peptide Sequences for DHCR7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51181, highly similar to 7-dehydrocholesterol reductase (EC (B4E1K5_HUMAN)
  • Sterol Delta(7)-reductase (DHCR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ERG4/ERG24 family.
  • Belongs to the ERG4/ERG24 family.
genes like me logo Genes that share domains with DHCR7: view

Function for DHCR7 Gene

Molecular function for DHCR7 Gene

UniProtKB/Swiss-Prot Function:
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol + NADP(+) = cholesta-5,7-dien-3beta-ol + H(+) + NADPH; Xref=Rhea:RHEA:23984, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:17759, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=; Evidence={ECO:0000269|PubMed:25637936, ECO:0000269|PubMed:9465114, ECO:0000269|PubMed:9634533};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesta-5,7,24-trien-3beta-ol + H(+) + NADPH = cholesta-5,24-dien-3beta-ol + NADP(+); Xref=Rhea:RHEA:46740, ChEBI:CHEBI:15378, ChEBI:CHEBI:17737, ChEBI:CHEBI:27910, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000250|UniProtKB:O88455};.
GENATLAS Biochemistry:
delta 7-dehydrocholesterol reductase,located in the endoplasmic reticulum and continuous outer nuclear membrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the ultimate step of cholesterol biosynthesis,deficient in SLOS

Enzyme Numbers (IUBMB) for DHCR7 Gene

Phenotypes From GWAS Catalog for DHCR7 Gene

Gene Ontology (GO) - Molecular Function for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25637936
GO:0009918 sterol delta7 reductase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IBA 21873635
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with DHCR7: view
genes like me logo Genes that share phenotypes with DHCR7: view

Human Phenotype Ontology for DHCR7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHCR7 Gene

MGI Knock Outs for DHCR7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHCR7

No data available for Transcription Factor Targets and HOMER Transcription for DHCR7 Gene

Localization for DHCR7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHCR7 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

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 DHCR7 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane IDA 9878250
GO:0005783 endoplasmic reticulum IDA 9878250
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with DHCR7: view

Pathways & Interactions for DHCR7 Gene

genes like me logo Genes that share pathways with DHCR7: view

UniProtKB/Swiss-Prot Q9UBM7-DHCR7_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IBA,IMP 9465114
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with DHCR7: view

No data available for SIGNOR curated interactions for DHCR7 Gene

Drugs & Compounds for DHCR7 Gene

(10) Drugs for DHCR7 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
cholesterol Approved, Investigational Pharma Agonist 0
cholic acid Approved Pharma Agonist, Full agonist 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0
NADP Experimental Pharma 0

(12) Additional Compounds for DHCR7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 5,7-Cholestadien-3-beta-ol
  • 5,7-Cholestadien-3beta-ol
  • Provitamin D3
  • (3b)-Cholesta-5,7-dien-3-ol
  • (3b)-Ergosta-5,24(28)-dien-3-ol
  • 24-Methylencholesterol
  • 24-Methylene-cholesterol
  • Chalinasterol
  • Ergosta-5, 24(28)-dien-3b-ol
  • Campesta-7,24(28)-dien-3beta-ol
  • Ergosta-5,7,24(28)-trien-3beta-ol
  • delta5-Avenasterol
  • δ5-avenasterol
  • (24Z)-Ethylidenecholesterol
  • (24Z)-Stigmasta-5,24(28)-dien-3-ol
  • (3.beta.,24Z)-stigmasta-5,24(28)-dien-3-ol
genes like me logo Genes that share compounds with DHCR7: view

Transcripts for DHCR7 Gene

mRNA/cDNA for DHCR7 Gene

19 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 DHCR7

Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9: - -
SP10: - -

Relevant External Links for DHCR7 Gene

GeneLoc Exon Structure for

Expression for DHCR7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHCR7 Gene

mRNA differential expression in normal tissues according to GTEx for DHCR7 Gene

This gene is overexpressed in Liver (x5.8).

Protein differential expression in normal tissues from HIPED for DHCR7 Gene

This gene is overexpressed in Fetal testis (19.5), Nasal epithelium (13.0), and Bone (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHCR7 Gene

Protein tissue co-expression partners for DHCR7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHCR7

SOURCE GeneReport for Unigene cluster for DHCR7 Gene:


mRNA Expression by UniProt/SwissProt for DHCR7 Gene:

Tissue specificity: Widely expressed. Most abundant in adrenal gland, liver, testis, and brain.

Evidence on tissue expression from TISSUES for DHCR7 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(3.4)
  • Blood(2.9)
  • Spleen(2.8)
  • Kidney(2.8)
  • Intestine(2.7)
  • Adrenal gland(2.7)
  • Bone marrow(2.7)
  • Lymph node(2.6)
  • Heart(2.5)
  • Muscle(2.3)
  • Lung(2.3)
  • Pancreas(2.3)
  • Eye(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHCR7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • aorta
  • breast
  • bronchus
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • trachea
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DHCR7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DHCR7 Gene

Orthologs for DHCR7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DHCR7 30 31
  • 99.16 (n)
(Canis familiaris)
Mammalia DHCR7 30 31
  • 88.14 (n)
(Bos Taurus)
Mammalia DHCR7 30 31
  • 87.16 (n)
(Mus musculus)
Mammalia Dhcr7 30 17 31
  • 84.85 (n)
(Rattus norvegicus)
Mammalia Dhcr7 30
  • 84.43 (n)
(Monodelphis domestica)
Mammalia DHCR7 31
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia DHCR7 31
  • 69 (a)
(Gallus gallus)
Aves DHCR7 30 31
  • 71.66 (n)
(Anolis carolinensis)
Reptilia DHCR7 31
  • 74 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhcr7 30
  • 75.9 (n)
MGC75866 30
(Danio rerio)
Actinopterygii dhcr7 30 31
  • 73.69 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta LBR 31
  • 12 (a)
(Caenorhabditis elegans)
Secernentea dhcr-7 31
  • 20 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 31
  • 28 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DWF5 30
  • 48.81 (n)
(Oryza sativa)
Liliopsida Os02g0465400 30
  • 49.32 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14045 30
Species where no ortholog for DHCR7 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for DHCR7 Gene

Gene Tree for DHCR7 (if available)
Gene Tree for DHCR7 (if available)
Evolutionary constrained regions (ECRs) for DHCR7: view image

Paralogs for DHCR7 Gene

Paralogs for DHCR7 Gene

(2) SIMAP similar genes for DHCR7 Gene using alignment to 10 proteins:

  • E9PJ54_HUMAN
  • E9PM00_HUMAN
  • E9PQ71_HUMAN
  • H0YE57_HUMAN
genes like me logo Genes that share paralogs with DHCR7: view

Variants for DHCR7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHCR7 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
640944 Uncertain Significance: Smith-Lemli-Opitz syndrome 71,437,868(-) C/A MISSENSE_VARIANT
652894 Pathogenic: Smith-Lemli-Opitz syndrome 71,435,453(-) GC/CA MISSENSE_VARIANT
658384 Uncertain Significance: Smith-Lemli-Opitz syndrome 71,442,260(-) T/C INTRON_VARIANT
658626 Likely Pathogenic: Smith-Lemli-Opitz syndrome 71,437,923(-) G/T MISSENSE_VARIANT
667656 Benign: not provided 71,444,595(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DHCR7 Gene

Structural Variations from Database of Genomic Variants (DGV) for DHCR7 Gene

Variant ID Type Subtype PubMed ID
dgv74n21 CNV loss 19592680
nsv518163 CNV loss 19592680

Variation tolerance for DHCR7 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHCR7 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHCR7 Gene

Disorders for DHCR7 Gene

MalaCards: The human disease database

(13) MalaCards diseases for DHCR7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
smith-lemli-opitz syndrome
  • slos
  • holoprosencephaly sequence
spinal cord lymphoma
  • lymphoma of the spinal cord
x-linked chondrodysplasia punctata 2
  • cdpx2
holoprosencephaly 11
  • hpe11
- elite association - COSMIC cancer census association via MalaCards
Search DHCR7 in MalaCards View complete list of genes associated with diseases


  • Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. {ECO:0000269 PubMed:10677299, ECO:0000269 PubMed:10995508, ECO:0000269 PubMed:11175299, ECO:0000269 PubMed:11427181, ECO:0000269 PubMed:12949967, ECO:0000269 PubMed:15954111, ECO:0000269 PubMed:25637936, ECO:0000269 PubMed:9653161, ECO:0000269 PubMed:9683613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHCR7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DHCR7: view

No data available for Genatlas for DHCR7 Gene

Publications for DHCR7 Gene

  1. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PMID: 9634533) Wassif CA … Porter FD (American journal of human genetics 1998) 2 3 4 23
  2. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. (PMID: 17965227) Witsch-Baumgartner M … Utermann G (Journal of medical genetics 2008) 3 23 41
  3. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. (PMID: 16497572) Ciara E … Krajewska-Walasek M (European journal of medical genetics 2006) 3 23 41
  4. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (PMID: 15954111) Waye JS … Porter FD (Human mutation 2005) 3 4 23
  5. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PMID: 15286151) Witsch-Baumgartner M … Utermann G (Journal of medical genetics 2004) 3 23 41

Products for DHCR7 Gene

  • Signalway ELISA kits for DHCR7
  • Signalway Proteins for DHCR7

Sources for DHCR7 Gene