BRENDA - Enzyme Database show
show all sequences of 1.14.14.29

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

Arnoldi, A.; Crimella, C.; Tenderini, E.; Martinuzzi, A.; D'Angelo, M.G.; Musumeci, O.; Toscano, A.; Scarlato, M.; Fantin, M.; Bresolin, N.; Bassi, M.T.; Clin. Genet. 81, 150-157 (2012)

Data extracted from this reference:

Cloned(Commentary)
Commentary
Organism
CYP7B1 genotyping and screening for CYP7B1 mutations in a large cohort of 105 Italian HSP index patients, including 50 patients with a complicated phenotype and 55 with a pure form, overall mutation frequencies of CYP7B1, overview
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
G443A
c.1328G-C, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
G87V
c.260G-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
H285L
c.854A-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
R324H
c.971G-A, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
O75881
gene Cyp7B1
-
Cloned(Commentary) (protein specific)
Commentary
Organism
CYP7B1 genotyping and screening for CYP7B1 mutations in a large cohort of 105 Italian HSP index patients, including 50 patients with a complicated phenotype and 55 with a pure form, overall mutation frequencies of CYP7B1, overview
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
G443A
c.1328G-C, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
G87V
c.260G-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
H285L
c.854A-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
R324H
c.971G-A, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
Homo sapiens
General Information
General Information
Commentary
Organism
metabolism
CYP7B1 is an enzyme expressed in many human tissues and implicated in cholesterol metabolism. In the liver, this protein is part of the alternate/acidic pathway for primary bile acid production while in brain, CYP7B1 provides the primary metabolic route for cholesterol derivatives dehydroepiandrosterone and related hydroxysteroids via 7alpha-hydroxylation
Homo sapiens
additional information
spastic paraplegia type 5, SPG5, is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-alpha-hydroxylase, CYP7B1, an enzyme implicated in cholesterol metabolism. Mutations in CYP7B1 are found in both pure and complicated forms of the disease, clinical phenotypes, overview
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
metabolism
CYP7B1 is an enzyme expressed in many human tissues and implicated in cholesterol metabolism. In the liver, this protein is part of the alternate/acidic pathway for primary bile acid production while in brain, CYP7B1 provides the primary metabolic route for cholesterol derivatives dehydroepiandrosterone and related hydroxysteroids via 7alpha-hydroxylation
Homo sapiens
additional information
spastic paraplegia type 5, SPG5, is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-alpha-hydroxylase, CYP7B1, an enzyme implicated in cholesterol metabolism. Mutations in CYP7B1 are found in both pure and complicated forms of the disease, clinical phenotypes, overview
Homo sapiens
Other publictions for EC 1.14.14.29
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)
726643
Roos
CYP7B1: novel mutations and ma ...
Homo sapiens
Acta Neurol. Scand.
129
330-334
2013
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711775
Arnoldi
Clinical phenotype variability ...
Homo sapiens
Clin. Genet.
81
150-157
2012
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Comparative modeling of 25-hyd ...
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Wada
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Mus musculus
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Homo sapiens
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689846
Olsson
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Homo sapiens
Prostate
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2007
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657550
Russell
The enzymes, regulation, and g ...
Homo sapiens, Mus musculus
Annu. Rev. Biochem.
72
137-174
2003
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659851
Ren
Regulation of oxysterol 7alpha ...
Rattus norvegicus
Metabolism
52
636-642
2003
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658874
Pandak William
Regulation of oxysterol 7alpha ...
Rattus norvegicus
Hepatology
35
1400-1408
2002
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657806
Martin
cyp7b1 catalyses the 7alpha-hy ...
Rattus norvegicus
Biochem. J.
355
509-515
2001
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658818
Wu
Transcriptional regulation of ...
Homo sapiens
Gene
272
191-197
2001
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659142
Li-Hawkins
Disruption of the oxysterol 7a ...
Mus musculus
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275
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2000
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659143
Li-Hawkins
Expression cloning of an oxyst ...
Homo sapiens, Mus musculus
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275
16543-16549
2000
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659660
Wu
Structure and functions of hum ...
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40
2195-2203
1999
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7410
Schwarz
Identification and characteriz ...
Mus musculus
J. Biol. Chem.
272
23995-24001
1997
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658584
Toll
7alpha-Hydroxylation of 25-hyd ...
Homo sapiens, Rattus norvegicus, Sus scrofa
Eur. J. Biochem.
224
309-316
1994
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