Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: DHCR7 (7-dehydrocholesterol reductase) Homo sapiens
Symbol: DHCR7
Name: 7-dehydrocholesterol reductase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 7-DHC reductase; delta-7-dehydrocholesterol reductase; putative sterol reductase SR-2; SLOS; sterol Delta(7)-reductase; sterol delta-7-reductase
Mus musculus (house mouse) : Dhcr7 (7-dehydrocholesterol reductase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dhcr7 (7-dehydrocholesterol reductase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dhcr7 (7-dehydrocholesterol reductase)
Pan paniscus (bonobo/pygmy chimpanzee) : DHCR7 (7-dehydrocholesterol reductase)
Canis lupus familiaris (dog) : DHCR7 (7-dehydrocholesterol reductase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dhcr7 (7-dehydrocholesterol reductase)
Sus scrofa (pig) : DHCR7 (7-dehydrocholesterol reductase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381171,434,411 - 71,448,431 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371171,145,457 - 71,159,477 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361170,823,105 - 70,837,125 (-)NCBINCBI36hg18NCBI36
Build 341170,823,110 - 70,837,047NCBI
Celera1168,438,984 - 68,453,003 (-)NCBI
Cytogenetic Map11q13.4NCBI
HuRef1167,439,049 - 67,453,070 (-)NCBIHuRef
CHM1_11171,029,428 - 71,043,448 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on DHCR7
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731755
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.