BRENDA - Enzyme Database show
show all sequences of 1.1.1.181

Molecular genetics of 3beta-hydroxy-DELTA5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease

Cheng, J.B.; Jacquemin, E.; Gerhardt, M.; Nazer, H.; Cresteil, D.; Heubi, J.E.; Setchell, K.D.; Russell, D.W.; J. Clin. Endocrinol. Metab. 88, 1833-1841 (2003)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
additional information
molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
Application (protein specific)
Application
Commentary
Organism
medicine
molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
additional information
molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme
Homo sapiens
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
Other publictions for EC 1.1.1.181
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [C]
Temperature Range [C]
Temperature Stability [C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [C] (protein specific)
Temperature Range [C] (protein specific)
Temperature Stability [C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
656364
Cheng
Molecular genetics of 3beta-hy ...
Homo sapiens
J. Clin. Endocrinol. Metab.
88
1833-1841
2003
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286129
Wikvall
Purification and properties of ...
Oryctolagus cuniculus
J. Biol. Chem.
256
3376-3380
1981
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