Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

scientific article published on 05 March 2009

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2009.02.006
P932PMC publication ID2668012
P698PubMed publication ID19268275
P5875ResearchGate publication ID24183838

P50authorAnn SaadaQ41879584
P2093author name stringAnn Saada
Avraham Shaag
Orly Elpeleg
Eyal Shteyer
Fida' Aziz Al-Hijawi
Rojette Kidess
Shoshanah Revel-Vilk
P2860cites workRegulation of cytochrome c oxidase activity by c-Src in osteoclastsQ24296720
HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cellsQ24302194
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyQ24317097
A panoramic view of yeast noncoding RNA processingQ27937560
Cytochrome c oxidase deficiencyQ28189586
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunctionQ28249352
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndromeQ28256452
Advances in the understanding of the congenital dyserythropoietic anaemias.Q30351796
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expressionQ33497845
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorptionQ34053469
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.Q34448380
Cytochrome oxidase in health and disease.Q34594190
Defects in cytochrome oxidase assembly in humans: lessons from yeastQ34600372
The phenotypic consequences of CFTR mutationsQ35206694
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide searchQ35249929
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaQ36430842
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidaseQ36719089
Cytochrome c oxidase subunit IV is essential for assembly and respiratory function of the enzyme complexQ40210842
Hypoxia is a major stimulator of osteoclast formation and bone resorption.Q51671770
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndromeQ68907896
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectexocrine pancreatic insufficiencyQ641605
P304page(s)412-417
P577publication date2009-03-05
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleExocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene
P478volume84

Reverse relations

cites work (P2860)
Q47074411A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Q60954715APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS
Q35088910Adaptation of leukemia cells to hypoxic condition through switching the energy metabolism or avoiding the oxidative stress
Q34220248Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core
Q36375925Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
Q38128556Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
Q36183717Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathology
Q38664955Diagnosis and management of congenital dyserythropoietic anemias
Q30369926Evolution of the oxygen sensitivity of cytochrome c oxidase subunit 4.
Q52625431High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
Q49126438Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Q37909459Mechanisms of mitochondrial diseases
Q35190973Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors
Q57470919Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile
Q34980882Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
Q26769015Mitochondrial cytochrome c oxidase deficiency
Q36551271Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis
Q26849285Mitochondrial genetics
Q90365674Molecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery
Q40261041Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Q47962448Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Q46327397Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia
Q24301791Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis
Q50218362Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Q34349348NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
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Q36708570hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.