DHCR7 7-dehydrocholesterol reductase [Homo sapiens (human)]
| Gene Symbol | DHCR7 |
| Entrez Gene ID | 1717 |
| Full Name | 7-dehydrocholesterol reductase |
| Synonyms | SLOS |
| 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. |
| Disorder | MIM: 602858 Smith-Lemli-Opitz syndrome, 270400 (3) |
| mRNA | NM_001360, 119943111 |
| Protein | NP_001351, 119943112 |
| Product | 7-dehydrocholesterol reductase |
| RefSeq Status | REVIEWED |
| mRNA | NM_001163817, 255308874 |
| Protein | NP_001157289, 255308875 |
| Product | 7-dehydrocholesterol reductase |
| RefSeq Status | REVIEWED |
| hsa00100 | Steroid biosynthesis |
| hsa01100 | Metabolic pathways |
WikiPathways
| WP197 | Cholesterol Biosynthesis |
BIOCYC
| META_PWY66-3 | cholesterol biosynthesis II (via 24,25-dihydrolanosterol) |
| META_PWY66-4 | cholesterol biosynthesis III (via desmosterol) |
| META_PWY66-341 | cholesterol biosynthesis I |
| META_PWY66-5 | superpathway of cholesterol biosynthesis |
Reactome
| REACT_22258 | Metabolism of lipids and lipoproteins |
| REACT_9405 | Cholesterol biosynthesis |
| Homo sapiens (human) | DHCR7 | NP_001351.2 |
| Pan troglodytes (chimpanzee) | DHCR7 | XP_001174170.1 |
| Canis lupus familiaris (dog) | DHCR7 | XP_540796.2 |
| Bos taurus (cattle) | DHCR7 | NP_001014927.1 |
| Mus musculus (house mouse) | Dhcr7 | NP_031882.1 |
| Rattus norvegicus (Norway rat) | Dhcr7 | NP_071784.1 |
| Gallus gallus (chicken) | DHCR7 | XP_420914.1 |
| Danio rerio (zebrafish) | dhcr7 | NP_958487.1 |
| Arabidopsis thaliana (thale cress) | DWF5 | NP_175460.1 |
| ID | Name | Evidence |
| GO:0001568 | blood vessel development | IEA |
| GO:0006695 | cholesterol biosynthetic process | IMP |
| GO:0006695 | cholesterol biosynthetic process | TAS |
| GO:0009791 | post-embryonic development | IEA |
| GO:0030154 | cell differentiation | IEA |
| GO:0030324 | lung development | IEA |
| GO:0035264 | multicellular organism growth | IEA |
| GO:0042127 | regulation of cell proliferation | IEA |
| GO:0045540 | regulation of cholesterol biosynthetic process | IEA |
Component
| ID | Name | Evidence |
| GO:0005640 | nuclear outer membrane | IDA |
| GO:0005783 | endoplasmic reticulum | IDA |
| GO:0005789 | endoplasmic reticulum membrane | EXP |
| GO:0005792 | microsome | IEA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0005515 | protein binding | IPI |
| GO:0016491 | oxidoreductase activity | IEA |
| GO:0047598 | 7-dehydrocholesterol reductase activity | EXP |
| GO:0047598 | 7-dehydrocholesterol reductase activity | IDA |
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