DHCR7 Proteins
DHCR7 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.
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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) Protein Protein
7-Dehydrocholesterol Reductase (DHCR7) Protein Protein
DHCR7 Protein Profile
Protein 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.
Gene names and symbols associated with DHCR7
- 7-dehydrocholesterol reductase (DHCR7) antibody
- 7-dehydrocholesterol reductase (dhcr7) antibody
- 7-dehydrocholesterol reductase L homeolog (dhcr7.L) antibody
- Ergosterol biosynthesis ERG4/ERG24 family (DWF5) antibody
- 7-dehydrocholesterol reductase (PAAG_04766) antibody
- 7-dehydrocholesterol reductase (PITG_13128) antibody
- 7-dehydrocholesterol reductase (VDBG_05423) antibody
- 7-dehydrocholesterol reductase (MGYG_00712) antibody
- 7-dehydrocholesterol reductase (TERG_00580) antibody
- 7-dehydrocholesterol reductase (Dhcr7) antibody
- 7-Dhcr antibody
- 7-STEROL DELTA7 REDUCTASE antibody
- 7RED antibody
- AA409147 antibody
- DELTA5 antibody
- DKFZp468C1911 antibody
- DWARF 5 antibody
- F11F12.21 antibody
- F11F12_21 antibody
- LE antibody
- LEPIDA antibody
- MGC64361 antibody
- PA antibody
- PARVA antibody
- SLOS antibody
- ST7R antibody
- STEROL DELTA7 REDUCTASE antibody
- xdhcr7 antibody
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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