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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu21071 NM_001163817 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu21071 NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu21071C NM_001163817 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu21071C NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00

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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?

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