Dhcr7
Gene Detail

Symbol Name ID

Dhcr7 7-dehydrocholesterol reductase MGI:1298378

Feature Type

protein coding gene

Genetic Map

Chromosome 7

88.33 cM, cytoband F5
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:143823145-143848410 bp, + strand From VEGA annotation of GRCm38   25266 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1042  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: sterol reductase, SR-2 type
Gene Tree: Dhcr7

Human homologs

Human Homolog		DHCR7, 7-dehydrocholesterol reductase
NCBI Gene ID		1717
neXtProt AC		NX_Q9UBM7
Human Synonyms		SLOS
Human Chr (Location)		11q13.4; chr11:71145457-71159477 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human DHCR7

Alleles and phenotypes

All alleles(7) : Targeted(4) Gene trapped(3)
 

Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate.

 
Human Diseases Modeled Using Mouse Dhcr7 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (26 annotations)

Process	blood vessel development, cell differentiation, ...
Component	endoplasmic reticulum, integral to membrane, ...
Function	7-dehydrocholesterol reductase activity, oxidoreductase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (25)    Tissues (14)    Images (14)
Theiler Stages: 23

Assay Type	Results
RNA in situ	25

cDNA source data(85)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(87) Genomic(1) cDNA(85) Primer pair(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000025933 (Evidence)
Ensembl Gene Model	ENSMUSG00000058454 (Evidence)
Entrez Gene	13360 (Evidence)
UniGene	249342
DFCI	TC1576492, TC1689670, TC1752663
DoTS	DT.529749, DT.94315622
NIA Mouse Gene Index	U008998
EC	1.3.1.21
Consensus CDS Project	CCDS22048.1
International Mouse Knockout Project Status	Dhcr7

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025933	VEGA Gene Model | MGI Sequence Detail	25266	C57BL/6J
transcript	OTTMUST00000063934	VEGA | MGI Sequence Detail	2556	Not Applicable
polypeptide	OTTMUSP00000031694	VEGA | MGI Sequence Detail	471	Not Applicable

All sequences(57) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(85 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001171	Ergosterol biosynthesis ERG4/ERG24
InterPro	IPR018083	Sterol reductase, conserved site
Protein Ontology	PR:000006454	7-dehydrocholesterol reductase

References

(Earliest) J:48735 Fitzky BU, et al., Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8181-6
(Latest) J:182044 Xu L, et al., DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. Neurobiol Dis. 2012 Mar;45(3):923-9
All references(54)

Other accession IDs

MGI:2141819