Aliases for DHCR7 Gene
Aliases for DHCR7 Gene
External Ids for DHCR7 Gene
- HGNC: 2860
- Entrez Gene: 1717
- Ensembl: ENSG00000172893
- OMIM: 602858
- UniProtKB: Q9UBM7
Previous HGNC Symbols for DHCR7 Gene
- SLOS
Previous GeneCards Identifiers for DHCR7 Gene
- GC11M073477
- GC11M072685
- GC11M071368
- GC11M070871
- GC11M070823
- GC11M071145
- GC11M067439
Summaries 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 Regulation of cholesterol biosynthesis by SREBP (SREBF) and cholesterol biosynthesis I. 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 TM7SF2.
UniProtKB/Swiss-Prot for DHCR7 Gene
-
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
-
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.
Additional gene information for DHCR7 Gene
- Monarch Initiative
- Search for DHCR7 at DataMed
- Search for DHCR7 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHCR7 Gene
Genomics for DHCR7 Gene
GeneHancer (GH) Regulatory Elements for DHCR7 Gene
Regulatory Element Products
Genomic Locations for DHCR7 Gene
- chr11:71,428,193-71,452,868
- (GRCh38/hg38)
- Size:
- 24,676 bases
- Orientation:
- Minus strand
- chr11:71,139,239-71,163,914
- (GRCh37/hg19)
Genomic View for DHCR7 Gene
- Cytogenetic band:
-
- 11q13.4 by Ensembl
- 11q13.4 by Entrez Gene
- 11q13.4 by HGNC


RefSeq DNA sequence for DHCR7 Gene
Proteins for DHCR7 Gene
-
Protein details for DHCR7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBM7-DHCR7_HUMAN
- Recommended name:
- 7-dehydrocholesterol reductase
- Protein Accession:
- Q9UBM7
- B2R6Z2
- O60492
- O60717
Protein attributes for DHCR7 Gene
- Size:
- 475 amino acids
- Molecular mass:
- 54489 Da
- Quaternary structure:
- No Data Available
Protein Expression for DHCR7 Gene
Selected DME Specific Peptides for DHCR7 Gene
- Q9UBM7:
-
- HLLPYFY
- IECSYTSADG
- MGIEFNP
- FIMACDQY
- WYLKTIDICHDHFGWYLGWGDCVWLP
- SGFWGVARH
- NILGYAVSTFA
- AVPYRLLPG
- DNWIPLLWC
- LYTLQGLYLVY
- KLFFNGRPGI
Post-translational modifications for DHCR7 Gene
- Ubiquitination at posLast=8888
Other Protein References for DHCR7 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for DHCR7
- Novus Biologicals Antibodies for DHCR7
-
Abcam antibodies for DHCR7
-
Cloud-Clone Corp. Antibodies for DHCR7
- Invitrogen Antibodies for DHCR7
- Search GeneTex for Antibodies for DHCR7
Protein Products
-
OriGene Purified Proteins for DHCR7
- Search Origene for MassSpec and Protein Over-expression Lysates for DHCR7
- Origene Custom Protein Services for DHCR7
-
Cloud-Clone Corp. Proteins for DHCR7
- antibodies-online: Search results for 4 available DHCR7 Proteins ranked by validation data
- Compare Top DHCR7 Proteins
-
Quality Products:
- Search GeneTex for Proteins for DHCR7
-
Abcam proteins for DHCR7
Assay Products
-
Cloud-Clone Corp. Assay Kits for DHCR7
- antibodies-online: Search results for 9 available DHCR7 Elisa Kits ranked by validation data
- Compare Top DHCR7 Elisa Kits
-
Quality Products:
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DHCR7 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UBM7- Family:
-
- Belongs to the ERG4/ERG24 family.
Function for DHCR7 Gene
Molecular function for DHCR7 Gene
- 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
- UniProtKB/Swiss-Prot CatalyticActivity:
- Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH.
- UniProtKB/Swiss-Prot Function:
- Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Enzyme Numbers (IUBMB) for DHCR7 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009918 | sterol delta7 reductase activity | IBA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016628 | oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | IEA | -- |
GO:0047598 | 7-dehydrocholesterol reductase activity | IDA,EXP | 9465114 |
GO:0050661 | NADP binding | ISS | -- |
Phenotypes for DHCR7 Gene
- MGI mutant phenotypes for DHCR7:
-
inferred from 3 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for DHCR7:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Decreased viability ratio
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased shRNA abundance
- Increased shRNA abundance
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DHCR7
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DHCR7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DHCR7 gene
- Search ViGene Biosciences for DHCR7
CRISPR Products
-
OriGene CRISPR knockouts for DHCR7
- genomics-online: gRNA clones - Search results for 111 available DHCR7 gene related products
- Overview of 111 available DHCR7 gene related products
- Applied Biological Materials CRISPR for DHCR7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DHCR7
- GenScript: Design CRISPR guide RNA sequences for DHCR7
miRNA for DHCR7 Gene
- miRTarBase miRNAs that target DHCR7
-
- hsa-mir-425-5p (MIRT016653)
- hsa-mir-335-5p (MIRT016982)
- hsa-mir-34a-5p (MIRT025254)
- hsa-mir-1260b (MIRT052760)
- hsa-mir-218-5p (MIRT440822)
- hsa-mir-374b-3p (MIRT543732)
- hsa-mir-7156-3p (MIRT543733)
- hsa-mir-4766-3p (MIRT543734)
- hsa-mir-1268b (MIRT543735)
- hsa-mir-1268a (MIRT543736)
- hsa-mir-5196-5p (MIRT543737)
- hsa-mir-4747-5p (MIRT543738)
- hsa-mir-7-5p (MIRT543739)
- hsa-mir-6853-5p (MIRT543740)
- hsa-mir-451b (MIRT543741)
miRNA Products
- Search ViGene Biosciences for DHCR7
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for DHCR7
- Browse OriGene Inhibitory RNA Products For DHCR7
- genomics-online: shRNA clones - Search results for 111 available DHCR7 gene related products
- Overview of 111 available DHCR7 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DHCR7 gene
Clone Products
- Sino Biological Human cDNA Clone for DHCR7
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DHCR7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DHCR7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for DHCR7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DHCR7
-
ViGene Biosciences adenoviral particle packaged cDNA for DHCR7 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DHCR7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DHCR7 gene
No data available for Phenotypes From GWAS Catalog , 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.
- Cytosol (3)
- Endoplasmic reticulum (3)
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 |
Pathways & Interactions for DHCR7 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | cholesterol biosynthesis I | ||
2 | Metabolism |
.37
|
|
3 | Terpenoid backbone biosynthesis | ||
4 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | ||
5 | Vitamin D Metabolism |
Pathways by source for DHCR7 Gene
6 BioSystems pathways for DHCR7 Gene
2 KEGG pathways for DHCR7 Gene
UniProtKB/Swiss-Prot Q9UBM7-DHCR7_HUMAN
- Pathway: Steroid biosynthesis; cholesterol biosynthesis.
Interacting Proteins 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 | IMP | 9465114 |
GO:0008202 | steroid metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for DHCR7 Gene
Drugs & Compounds for DHCR7 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
cholesterol | Approved, Experimental, Investigational | Pharma | Agonist | 0 | ||
cholic acid | Approved | Pharma | Full agonist, Agonist | 0 | ||
NAD | Pharma | Full agonist, Agonist | 0 | |||
AY 9944 dihydrochloride | Pharma | Hedgehog Inhibitor, Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
7-dehydrocholesterol |
|
434-16-2 | ||||
24-Methylenecholesterol |
|
474-63-5 |
|
|||
5-Dehydroavenasterol |
|
|
||||
5-Dehydroepisterol |
|
23582-83-4 |
|
|||
Avenasterol |
|
481-14-1 |
|
(1) Tocris Compounds for DHCR7 Gene
Compound | Action | Cas Number |
---|---|---|
AY 9944 dihydrochloride | Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase | 366-93-8 |
Transcripts for DHCR7 Gene
mRNA/cDNA for DHCR7 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (440) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DHCR7 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DHCR7
- genomics-online: gRNA clones - Search results for 111 available DHCR7 gene related products
- Overview of 111 available DHCR7 gene related products
- Applied Biological Materials CRISPR for DHCR7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DHCR7
- GenScript: Design CRISPR guide RNA sequences for DHCR7
miRNA Products
- Search ViGene Biosciences for DHCR7
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for DHCR7
- Browse OriGene Inhibitory RNA Products For DHCR7
- genomics-online: shRNA clones - Search results for 111 available DHCR7 gene related products
- Overview of 111 available DHCR7 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DHCR7 gene
Clone Products
- Sino Biological Human cDNA Clone for DHCR7
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DHCR7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DHCR7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for DHCR7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
Expression for DHCR7 Gene
mRNA differential expression in normal tissues according to GTEx for DHCR7 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DHCR7 Gene
NURSA nuclear receptor signaling pathways regulating expression of DHCR7 Gene:
DHCR7SOURCE GeneReport for Unigene cluster for DHCR7 Gene:
Hs.503134mRNA Expression by UniProt/SwissProt for DHCR7 Gene:
Q9UBM7-DHCR7_HUMANEvidence on tissue expression from TISSUES for DHCR7 Gene
- Nervous system(4.9)
- Liver(4.6)
- Skin(2.8)
- Blood(2.2)
- Adrenal gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DHCR7 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- 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
Primer Products
-
OriGene qPCR primer pairs and template standards for DHCR7
-
OriGene qPCR primer pairs for DHCR7
- genomics-online: primer clones - Search results for 111 available DHCR7 gene related products
- Overview of 111 available DHCR7 gene related products
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DHCR7 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | DHCR7 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | DHCR7 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Dhcr7 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Dhcr7 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DHCR7 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | DHCR7 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DHCR7 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | DHCR7 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | dhcr7 33 |
|
||
MGC75866 33 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | dhcr7 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | LBR 34 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | dhcr-7 34 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERG24 34 |
|
OneToMany | |
thale cress (Arabidopsis thaliana) |
eudicotyledons | DWF5 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os02g0465400 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.14045 33 |
|
- Species where no ortholog for DHCR7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
Paralogs for DHCR7 Gene
(2) SIMAP similar genes for DHCR7 Gene using alignment to 10 proteins:
Variants for DHCR7 Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1044482 | benign, conflicting-interpretations-of-pathogenicity, not specified, Smith-Lemli-Opitz syndrome | 71,444,125(-) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
rs1044535 | benign, Smith-Lemli-Opitz syndrome | 71,434,732(-) | G/A | 3_prime_UTR_variant | |
rs1046560765 | syndrome (SLOS) [MIM:270400] | 71,435,581(-) | A/G | coding_sequence_variant, missense_variant, synonymous_variant | |
rs104886033 | conflicting-interpretations-of-pathogenicity, Smith-Lemli-Opitz syndrome, not provided | 71,444,952(-) | T/C | initiator_codon_variant, missense_variant | |
rs104886035 | pathogenic, not provided, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] | 71,444,163(-) | G/A | coding_sequence_variant, missense_variant |
Additional Variant Information for DHCR7 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHCR7 Gene
Disorders for DHCR7 Gene

(4) MalaCards diseases for DHCR7 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
smith-lemli-opitz syndrome |
|
|
holoprosencephaly |
|
|
myotonic dystrophy 1 |
|
|
chromosome 2q35 duplication syndrome |
|
|
UniProtKB/Swiss-Prot
DHCR7_HUMAN- 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: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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DHCR7 Gene
Publications for DHCR7 Gene
- 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 22 58
- 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 22 44 58
- 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 22 44 58
- 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 22 58
- 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 22 44 58
Products for DHCR7 Gene
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- Custom Antibody ServicesOriGene Antibodies for DHCR7
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- Cloud-Clone Corp. Antibodies for DHCR7
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- Invitrogen Antibodies for DHCR7
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- antibodies-online: Search results for 44 available DHCR7 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for 111 available DHCR7 gene related products
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- Overview of 111 available DHCR7 gene related products
- genomics-online: shRNA clones - Search results for 111 available DHCR7 gene related products
- Overview of 111 available DHCR7 gene related products
Sources for DHCR7 Gene
- (1) GeneCards
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- (3) EntrezGene
- (4) Swiss-Prot
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- (7) GeneLoc
- (8) Gene Wiki
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- (24) DrugBank
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- (28) ASD
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- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
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- (47) Atlas
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- (54) Leiden
- (55) miRBase
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- (58) PubMed
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
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- (82) Invitrogen
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- (84) Vector BioLabs
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- (92) COMPARTMENTS
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- (96) Addgene
- (97) antibodies-online
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