Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.3.1.21 extracted from

  • Boland, M.R.; Tatonetti, N.P.
    Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review (2016), Pharmacogenomics J., 16, 411-429.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
E288K the mutation is associated with Lemli-Opitz syndrome Homo sapiens
E448K the mutation is associated with Lemli-Opitz syndrome Homo sapiens
F302L the mutation is associated with Lemli-Opitz syndrome Homo sapiens
G147D the mutation is associated with Lemli-Opitz syndrome Homo sapiens
G303R the mutation is associated with Lemli-Opitz syndrome Homo sapiens
G410S the mutation is associated with Lemli-Opitz syndrome Homo sapiens
H119L the mutation is associated with Lemli-Opitz syndrome Homo sapiens
H301Q the mutation is associated with Lemli-Opitz syndrome Homo sapiens
H405Y the mutation is associated with Lemli-Opitz syndrome Homo sapiens
L157P the mutation is associated with Lemli-Opitz syndrome Homo sapiens
L99P the mutation is associated with Lemli-Opitz syndrome Homo sapiens
P51S the mutation is associated with Lemli-Opitz syndrome Homo sapiens
Q98X the mutation is associated with Lemli-Opitz syndrome Homo sapiens
R242C the mutation is associated with Lemli-Opitz syndrome Homo sapiens
R352Q the mutation is associated with Lemli-Opitz syndrome Homo sapiens
R352W the mutation is associated with Lemli-Opitz syndrome Homo sapiens
R363C the mutation is associated with Lemli-Opitz syndrome Homo sapiens
R404C the mutation is associated with Lemli-Opitz syndrome Homo sapiens
S113C the mutation is associated with Lemli-Opitz syndrome Homo sapiens
S169L the mutation is associated with Lemli-Opitz syndrome Homo sapiens
T154R the mutation is associated with Lemli-Opitz syndrome Homo sapiens
T93M the mutation is associated with Lemli-Opitz syndrome Homo sapiens
V326L the mutation is associated with Lemli-Opitz syndrome Homo sapiens
V326R the mutation is associated with Lemli-Opitz syndrome Homo sapiens
V330M the mutation is associated with Lemli-Opitz syndrome Homo sapiens
W151X the mutation is associated with Lemli-Opitz syndrome Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
(+)-pachysamine B
-
Homo sapiens
3'-methoxy-4'-hydroxyclomiphene
-
Homo sapiens
afimoxifene
-
Homo sapiens
Chloropromazine
-
Homo sapiens
clozapine
-
Homo sapiens
cyclopamine
-
Homo sapiens
doxorubicin
-
Homo sapiens
epipachysamine D
-
Homo sapiens
haloperidol
-
Homo sapiens
LY-117018
-
Homo sapiens
monomethylarsonous acid
-
Homo sapiens
N-nitrosodimethylamine
-
Homo sapiens
nafoxidine
-
Homo sapiens
ochratoxin A
-
Homo sapiens
potassium dichromate
-
Homo sapiens
proadifen
-
Homo sapiens
progesterone
-
Homo sapiens
rel-ormeloxifene
-
Homo sapiens
simvastatin
-
Homo sapiens
tamoxifen
-
Homo sapiens
tesmilifene
-
Homo sapiens
trioxifene
-
Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
cholesterol + NADP+ Homo sapiens
-
cholesta-5,7-dien-3beta-ol + NADPH + H+
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
cholesterol + NADP+
-
Homo sapiens cholesta-5,7-dien-3beta-ol + NADPH + H+
-
?

Synonyms

Synonyms Comment Organism
Dhcr7
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADP+
-
Homo sapiens

IC50 Value

IC50 Value IC50 Value Maximum Comment Organism Inhibitor Structure
0.000012
-
pH and temperature not specified in the publication Homo sapiens tamoxifen
0.000022
-
pH and temperature not specified in the publication Homo sapiens 3'-methoxy-4'-hydroxyclomiphene
0.00015
-
pH and temperature not specified in the publication Homo sapiens doxorubicin
0.0006
-
pH and temperature not specified in the publication Homo sapiens (+)-pachysamine B
0.02
-
pH and temperature not specified in the publication Homo sapiens epipachysamine D

General Information

General Information Comment Organism
malfunction the Lemli-Opitz syndrome results from mutations in the 7-dehydrocholesterol reductase gene Homo sapiens