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Gene: DHCR7 (7-dehydrocholesterol reductase) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on DHCR7
Alliance Gene
NCBI 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



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