BRENDA - Enzyme Database
show all sequences of 2.5.1.39

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

Diomedi-Camassei,F.; Di Giandomenico, S.; Santorelli, F.M.; Caridi, G.; Piemonte, F.; Montini, G.; Ghiggeri, G.M.; Murer, L.; Barisoni, L.; Pastore, A.; Onetti Muda, A.; Valente, M.L.; Bertini, E.; Emma, F.; J. Am. Soc. Nephrol. 18, 2773-2780 (2007)

Data extracted from this reference:

Cloned(Commentary)
Cloned (Commentary)
Organism
gene COQ2, DNA and amino acid sequence determination and analysis, genotyping
Homo sapiens
Engineering
Protein Variants
Commentary
Organism
R197H/N228S
naturally occurring lethal enzyme mutation, renal phenotype including collapsing glomerulonepritis and steroid-resistant nephrotic syndome
Homo sapiens
S146N
naturally occurring lethal enzyme mutation, the mutation causes oliguria, oligohydramnios, hypertension, and seizures
Homo sapiens
Y297C
naturally occurring lethal enzyme mutation causing a severe phenotype, with end-stage renal failure, focal segmental glomeruloslerosis, steroid-resistant nephrotic syndome, developmental delay and developmental regression, optic atrophy, seizures, myoclonic seizures, refractory seizures, status epilepticus, and nystagmoid movements, overview
Homo sapiens
Organism
Organism
UniProt
Commentary
Textmining
Homo sapiens
Q96H96
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
brain
-
Homo sapiens
-
kidney
-
Homo sapiens
-
Synonyms
Synonyms
Commentary
Organism
COQ2
-
Homo sapiens
Cloned(Commentary) (protein specific)
Commentary
Organism
gene COQ2, DNA and amino acid sequence determination and analysis, genotyping
Homo sapiens
Engineering (protein specific)
Protein Variants
Commentary
Organism
R197H/N228S
naturally occurring lethal enzyme mutation, renal phenotype including collapsing glomerulonepritis and steroid-resistant nephrotic syndome
Homo sapiens
S146N
naturally occurring lethal enzyme mutation, the mutation causes oliguria, oligohydramnios, hypertension, and seizures
Homo sapiens
Y297C
naturally occurring lethal enzyme mutation causing a severe phenotype, with end-stage renal failure, focal segmental glomeruloslerosis, steroid-resistant nephrotic syndome, developmental delay and developmental regression, optic atrophy, seizures, myoclonic seizures, refractory seizures, status epilepticus, and nystagmoid movements, overview
Homo sapiens
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
brain
-
Homo sapiens
-
kidney
-
Homo sapiens
-
General Information
General Information
Commentary
Organism
malfunction
enzyme mutations cause reduced CoQ10 levels, renal dysfunction associated with mitochondriopathies, and/or an epileptic phenotype, overview. The prevalence of renal symptoms in COQ2 defects may be related to differential expression of proteins involved in ubiquinone metabolism
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
malfunction
enzyme mutations cause reduced CoQ10 levels, renal dysfunction associated with mitochondriopathies, and/or an epileptic phenotype, overview. The prevalence of renal symptoms in COQ2 defects may be related to differential expression of proteins involved in ubiquinone metabolism
Homo sapiens
Other publictions for EC 2.5.1.39
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
Synonyms
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)
759945
Liu
SmPPT, a 4-hydroxybenzoate po ...
Salvia miltiorrhiza
Plant Cell Rep.
38
1527-1540
2019
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760056
Liu
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Site-directed mutagenesis of ...
Elizabethkingia meningoseptica
Proc. Biochem.
58
186-192
2017
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728802
Cheng
Structural insights into ubiqu ...
Aeropyrum pernix, Aeropyrum pernix DSM 11879
Science
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878-881
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738168
Scalais
Early myoclonic epilepsy, hype ...
Homo sapiens
Eur. J. Paediatr. Neurol.
17
625-630
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1
1
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723550
Quinzii
Effects of inhibiting CoQ10 bi ...
Homo sapiens
PLoS ONE
7
e30606
2012
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2
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723246
Forsman
4-Nitrobenzoate inhibits coenz ...
Mus musculus
Nat. Chem. Biol.
6
515-517
2010
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1
1
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703208
Bräuer
A structural model of the memb ...
Escherichia coli
Chembiochem
9
982-992
2008
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5
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1
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1
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703609
Quinzii
Respiratory chain dysfunction ...
Homo sapiens
FASEB J.
22
1874-1885
2008
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674978
Zhang
Phenotypes and fed-batch ferme ...
Schizosaccharomyces pombe, Schizosaccharomyces pombe SPQ-01
J. Biotechnol.
128
120-131
2007
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675069
Mollet
Prenyldiphosphate synthase, su ...
Homo sapiens
J. Clin. Invest.
117
765-772
2007
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687033
Lopez-Martin
Missense mutation of the COQ2 ...
Saccharomyces cerevisiae, Homo sapiens
Hum. Mol. Genet.
16
1091-1097
2007
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1
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705592
Tran
Endogenous synthesis of coenzy ...
Arabidopsis thaliana, Oryza sativa, Saccharomyces cerevisiae, Schizosaccharomyces pombe, Rattus norvegicus
Mitochondrion
7
62-71
2007
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1
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738464
Diomedi-Camassei
COQ2 nephropathy: a newly desc ...
Homo sapiens
J. Am. Soc. Nephrol.
18
2773-2780
2007
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1
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1
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671299
Buron
Stimulation of polyprenyl 4-hy ...
Homo sapiens
Anal. Biochem.
353
15-21
2006
4
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1
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1
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676467
Ohara
Functional characterization of ...
Oryza sativa
Plant Cell Physiol.
47
581-590
2006
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1
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7
2
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1
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657846
Forsgren
Isolation and functional expre ...
Saccharomyces cerevisiae, Homo sapiens
Biochem. J.
382
519-526
2004
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2
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1
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2
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660199
Okada
The AtPPT1 gene encoding 4-hyd ...
Arabidopsis thaliana
Plant Mol. Biol.
55
567-577
2004
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705223
Brauer
Modeling the E. coli 4-hydroxy ...
Escherichia coli
J. Mol. Model.
10
317-327
2004
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637004
Tekle
Ubiquinone biosynthesis in rat ...
Rattus norvegicus
Biochem. Biophys. Res. Commun.
291
1128-1133
2002
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637002
Boehm
Active expression of the ubiA ...
Escherichia coli
Transgenic Res.
9
477-486
2000
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637005
Uchida
Phenotypes of fission yeast de ...
Schizosaccharomyces pombe
J. Bacteriol.
182
6933-6939
2000
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1
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637006
Wessjohann
-
Prenylation of benzoic acid de ...
Escherichia coli
Angew. Chem.
35
1697-1699
1996
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703082
Olsson
-
Enzymes of the mevalonate path ...
Rattus norvegicus
Carcinogenesis
6
599-605
1995
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705488
Andersson
Age-dependent modifications in ...
Rattus norvegicus
Mech. Ageing Dev.
85
1-14
1995
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2
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1
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