DHCR7 Protéines
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7-Dehydrocholesterol Reductase (DHCR7) (AA 1-471) protein (rho-1D4 tag) Protein
7-Dehydrocholesterol Reductase (DHCR7) (AA 1-475) protein (rho-1D4 tag) Protein
7-Dehydrocholesterol Reductase (DHCR7) (AA 1-475) protein (GST tag) Protein
7-Dehydrocholesterol Reductase (DHCR7) Protéine Protein
Profil protéine DHCR7
Profil protéine
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.
Gene names and symbols associated with DHCR7
- 7-dehydrocholesterol reductase (DHCR7) anticorps
- 7-dehydrocholesterol reductase (dhcr7) anticorps
- 7-dehydrocholesterol reductase L homeolog (dhcr7.L) anticorps
- Ergosterol biosynthesis ERG4/ERG24 family (DWF5) anticorps
- 7-dehydrocholesterol reductase (PAAG_04766) anticorps
- 7-dehydrocholesterol reductase (PITG_13128) anticorps
- 7-dehydrocholesterol reductase (VDBG_05423) anticorps
- 7-dehydrocholesterol reductase (MGYG_00712) anticorps
- 7-dehydrocholesterol reductase (TERG_00580) anticorps
- 7-dehydrocholesterol reductase (Dhcr7) anticorps
- 7-Dhcr anticorps
- 7-STEROL DELTA7 REDUCTASE anticorps
- 7RED anticorps
- AA409147 anticorps
- DELTA5 anticorps
- DKFZp468C1911 anticorps
- DWARF 5 anticorps
- F11F12.21 anticorps
- F11F12_21 anticorps
- LE anticorps
- LEPIDA anticorps
- MGC64361 anticorps
- PA anticorps
- PARVA anticorps
- SLOS anticorps
- ST7R anticorps
- STEROL DELTA7 REDUCTASE anticorps
- xdhcr7 anticorps
Protein level used designations for DHCR7
7-DHC reductase , sterol Delta(7)-reductase , 7-dehydrocholesterol reductase , delta-7-dehydrocholesterol reductase , putative sterol reductase SR-2 , sterol delta-7-reductase
| GENE ID | SPECIES |
|---|---|
| 100061433 | Equus caballus |
| 378446 | Danio rerio |
| 380248 | Xenopus laevis |
| 394844 | Xenopus (Silurana) tropicalis |
| 841465 | Arabidopsis thaliana |
| 9096525 | Paracoccidioides sp. 'lutzii' Pb01 |
| 9472946 | Phytophthora infestans T30-4 |
| 9531294 | Verticillium alfalfae VaMs.102 |
| 10031944 | Arthroderma gypseum CBS 118893 |
| 10374056 | Trichophyton rubrum CBS 118892 |
| 100172090 | Pongo abelii |
| 13360 | Mus musculus |
| 64191 | Rattus norvegicus |
| 1717 | Homo sapiens |
| 422982 | Gallus gallus |
| 483675 | Canis lupus familiaris |
| 514745 | Bos taurus |
| 379273 | Xenopus laevis |
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