BRENDA - Enzyme Database
show all sequences of 4.4.1.17

Deletions of Xp provide evidence for the role of holocytochrome c-type synthase (HCCS) in congenital diaphragmatic hernia

Qidwai, K.; Pearson, D.; Patel, G.; Pober, B.; Immken, L.; Cheung, S.; Scott, D.; Am. J. Med. Genet. A 152, 1588-1590 (2010)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
patient with deletion of the HCCS gene, diagnosis of a microphthalmia with linaer skin defects syndrome. Patient showed bilateral microphthalmia with optic atrophy, a congenital cataract, linear vascular lesions on the cheeks, neck and nose, apparently small, cupped poorly formed ears, anteverted nares, small areolae, a prominent xiphoid, an apparently small phallus, and right cryptorchidism. He had a patent ductus arteriosus, a patent foramen ovale and severe pulmonary hypertension attributed to pulmonary hypoplasia. Head ultrasound showed bilateral ventriculomegaly and agenesis of the corpus callosum. He also had poor tone and diminished reflexes on neurological examination. Patient died at 4 days of age
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
P53701
-
-
Application (protein specific)
Application
Commentary
Organism
medicine
patient with deletion of the HCCS gene, diagnosis of a microphthalmia with linaer skin defects syndrome. Patient showed bilateral microphthalmia with optic atrophy, a congenital cataract, linear vascular lesions on the cheeks, neck and nose, apparently small, cupped poorly formed ears, anteverted nares, small areolae, a prominent xiphoid, an apparently small phallus, and right cryptorchidism. He had a patent ductus arteriosus, a patent foramen ovale and severe pulmonary hypertension attributed to pulmonary hypoplasia. Head ultrasound showed bilateral ventriculomegaly and agenesis of the corpus callosum. He also had poor tone and diminished reflexes on neurological examination. Patient died at 4 days of age
Homo sapiens
Other publictions for EC 4.4.1.17
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)
747125
Babbitt
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Substrate recognition of holoc ...
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713714
Qidwai
Deletions of Xp provide eviden ...
Homo sapiens
Am. J. Med. Genet. A
152
1588-1590
2010
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715120
Corvest
c-type cytochrome assembly in ...
Saccharomyces cerevisiae
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2010
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Mutations of the mitochondrial ...
Homo sapiens
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Cyc2p, a membrane-bound flavop ...
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Steiner
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Lill
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94059
Zollner
Molecular cloning and characte ...
Neurospora crassa, Saccharomyces cerevisiae
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207
1093-1100
1992
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94060
Drygas
Cloning and analysis of the Ne ...
Neurospora crassa
J. Biol. Chem.
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17897-17906
1989
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94056
Dumont
Identification and sequence of ...
Saccharomyces cerevisiae
EMBO J.
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235-241
1987
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94057
Nicholson
Import of cytochrome c into mi ...
Neurospora crassa
Eur. J. Biochem.
164
147-157
1987
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94055
Enosawa
Localization of enzyme for hem ...
Saccharomyces cerevisiae
Biochem. Biophys. Res. Commun.
141
1145-1150
1986
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