DHCR7
-
Official Full Name
7-dehydrocholesterol reductase -
Overview
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. -
Synonyms
DHCR7;7-dehydrocholesterol reductase;SLOS, Smith Lemli Opitz syndrome;7 dehydrocholesterol reductase;7 DHC reductase;Delta 7 dehydrocholesterol reductase;Putative sterol reductase SR 2;Sterol Delta;7-DHC reductase;sterol delta-7-reductase;putative sterol reductase SR-2;delta-7-dehydrocholesterol reductase;SLOS
Recombinant Proteins
- Zebrafish
- Rat
- Human
- Chicken
- Mouse
- Bovine
- Xenopus laevis
- zebrafish
- Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)
- Mammalian Cells
- Wheat Germ
- HEK293
- In Vitro Cell Free System
- Protein Conjugation
- E.coli
- His
- GST
- Non
- Avi
- Fc
Involved Pathway
DHCR7 involved in several pathways and played different roles in them. We selected most pathways DHCR7 participated on our site, such as Activation of gene expression by SREBF (SREBP),Cholesterol biosynthesis,Metabolic pathways, which may be useful for your reference. Also, other proteins which involved in the same pathway with DHCR7 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | PMVK,INSIG1,INSIG2,YY2,NFYBA,NFYAL,SREBF2,NFYBB,MTF1 |
| Steroid biosynthesis | LSS,FDFT1,SQLEA,SOAT2,DHCR24,EBP,SC4MOL,CELL,CYP2R1,TM7SF2 |
| Activation of gene expression by SREBF (SREBP) | NFYBA,SREBF2,PMVK,MTF1,NCOA2,CARM1,NFYBB,HELZ2,CYP51A1,NFYAL |
| Metabolism of lipids and lipoproteins | NFYBA,GGTLC1,SLCO1B1,MTF1,APOEB,AKR1C21,SIN3B,CYP8B2,VAPB,PLBD1 |
| cholesterol biosynthesis I | LBR,EBP,DHCR24 |
| Metabolism | CYP3A7,SLC25A1A,AHCY,SLC25A27,FMODA,ADK,TM9SF1,APOA5,HPSE,ITPKB |
| Metabolic pathways | ATP6V0A2,NAMPT,BCO1L,GALK1,GOT2A,GPI1,P4HA3,MPI,DBH,GALT |
| Cholesterol biosynthesis | DHCR24,CYP51A1,ARV1,SREBF2,EBP,LBR,PMVK |
Protein Function
DHCR7 has several biochemical functions, for example, 7-dehydrocholesterol reductase activity. Some of the functions are cooperated with other proteins, some of the functions could acted by DHCR7 itself. We selected most functions DHCR7 had, and list some proteins which have the same functions with DHCR7. You can find most of the proteins on our site.
| Function | Related Protein |
|---|
Interacting Protein
DHCR7 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with DHCR7 here. Most of them are supplied by our site. Hope this information will be useful for your research of DHCR7.
TOR1A;FADS1;ILK;NDN;TNIK;q8czf9_yerpe;Cep152;15-deoxy-delta(12,14;E2F3;Atp2a2;LTN1;1C;ERBB2;Bmpr1a;Smn1;P;Hspa14;AGO2
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