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DHCR7 7-dehydrocholesterol reductase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001163817 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol DHCR7
Entrez Gene ID 1717
Full Name 7-dehydrocholesterol reductase
Synonyms SLOS
General protein information
Preferred Names
7-dehydrocholesterol reductase
Names
7-dehydrocholesterol reductase
7-DHC reductase
sterol delta-7-reductase
putative sterol reductase SR-2
delta-7-dehydrocholesterol reductase
NP_001157289.1
NP_001351.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13.4

Summary 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 mental retardation, 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].
Disorder

MIM: 602858

Smith-Lemli-Opitz syndrome, 270400 (3)

mRNA Protein Product Sequence Price Select
NM_001163817, 255308874 NP_001157289, 255308875 7-dehydrocholesterol reductase ORF Sequence $550.00
NM_001360, 119943111 NP_001351, 119943112 7-dehydrocholesterol reductase ORF Sequence $550.00
KEGG
hsa00100Steroid biosynthesis
hsa_M00101Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol
WikiPathways
WP197Cholesterol biosynthesis
BIOCYC
META_PWY66-341cholesterol biosynthesis I
META_PWY66-5superpathway of cholesterol biosynthesis
META_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
META_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_PWY66-341cholesterol biosynthesis I
HUMAN_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
HUMAN_PWY66-4cholesterol biosynthesis III (via desmosterol)
Reactome
REACT_9405Cholesterol biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_147797Regulation of cholesterol biosynthesis by SREBP (SREBF)
REACT_147904Activation of gene expression by SREBF (SREBP)
Homo sapiens (human)DHCR7NP_001157289.1
Pan troglodytes (chimpanzee)DHCR7XP_001174206.1
Canis lupus familiaris (dog)DHCR7XP_005631421.1
Bos taurus (cattle)DHCR7NP_001014927.1
Mus musculus (house mouse)Dhcr7NP_031882.1
Rattus norvegicus (Norway rat)Dhcr7NP_071784.1
Gallus gallus (chicken)DHCR7NP_001186419.1
Danio rerio (zebrafish)dhcr7NP_958487.1
Arabidopsis thaliana (thale cress)DWF5NP_175460.1
Xenopus (Silurana) tropicalis (western clawed frog)dhcr7NP_989235.1
Process
IDNameEvidence
GO:0001568blood vessel developmentIEA
GO:0006695cholesterol biosynthetic processIEA
GO:0006695cholesterol biosynthetic processIMP
GO:0006695cholesterol biosynthetic processTAS
GO:0009791post-embryonic developmentIEA
GO:0030154cell differentiationIEA
GO:0030324lung developmentIEA
GO:0035264multicellular organism growthIEA
GO:0042127regulation of cell proliferationIEA
GO:0044281small molecule metabolic processTAS
GO:0045540regulation of cholesterol biosynthetic processIEA
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005640nuclear outer membraneIDA
GO:0005783endoplasmic reticulumIDA
GO:0005789endoplasmic reticulum membraneTAS
GO:0016020membraneIDA
GO:0016021integral component of membraneIEA
Function
IDNameEvidence
GO:00475987-dehydrocholesterol reductase activityIDA
GeneCards DHCR7
UniProt Q9UBM7
Vega OTTHUMG00000167346
MIM 602858
Ensembl ENSG00000172893
HGNC 2860
HPRD 04174

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the DHCR7 gene?

The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in cholesterol production in many types of cells. Specifically, 7-dehydrocholesterol reductase converts a molecule called 7-dehydrocholesterol to cholesterol.

Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). It has important functions both before and after birth. Cholesterol plays a critical role in embryonic development by interacting with signaling proteins that control early development of the brain, limbs, genital tract, and other structures. It is also a structural component of cell membranes and myelin, the fatty covering that insulates nerve cells. Additionally, cholesterol is used to make certain hormones and is important for the production of acids used in digestion (bile acids).

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