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Results 1 - 4 of 4
EC Number
identification of mutations R217C and DELTA197-268 in female patients with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant proteins are unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis. Upon expression in CHO-K1 cells, mutant DELTA197-268 protein fails to be sorted to mitochondria
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
molecular biology
system III, cytochrome c heme lyase, is an enzyme found in the mitochondria of many eukaryotes, which is used for heterologous expression of mitochondrial holocytochromes c
mutants E159A and W118A display enhanced release of cytochrome c from the active site. The mutant allows for synthesis of cytochrome c variants such as cyt c H19M (bis-Met), cyt c M81H (bis-His), cyt c M81A (His/OH), cyt c C15S, which exhibit proper folding
Results 1 - 4 of 4