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Gene: DHCR7 (7-dehydrocholesterol reductase) Homo sapiens
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Symbol: DHCR7
Name: 7-dehydrocholesterol reductase
Description: Exhibits 7-dehydrocholesterol reductase activity. Involved in cholesterol biosynthetic process. Localizes to cytosol; endoplasmic reticulum; and nuclear outer membrane. Implicated in Smith-Lemli-Opitz syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 7-DHC reductase; delta-7-dehydrocholesterol reductase; delta7-sterol reductase; putative sterol reductase SR-2; SLOS; sterol Delta(7)-reductase; sterol delta-7-reductase; sterol reductase SR-2
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)
Chlorocebus sabaeus (African green monkey) : DHCR7 (7-dehydrocholesterol reductase)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38.p13 Ensembl1171,428,193 - 71,452,868 (-)EnsemblGRCh38hg38GRCh38
GRCh381171,434,411 - 71,448,393 (-)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

Expression

RNA-SEQ Expression

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

RGD Object Information
RGD ID: 731755
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-06-18
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.