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Literature summary for 2.5.1.39 extracted from

  • 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.
    COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement (2007), J. Am. Soc. Nephrol., 18, 2773-2780.
    View publication on PubMed
Search for more literature for 2.5.1.39

Cloned(Commentary)

Cloned (Comment) Organism
gene COQ2, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment 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 Comment Textmining
Homo sapiens Q96H96
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-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Homo sapiens
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kidney
-
 Homo sapiens
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Synonyms

Synonyms Comment Organism
COQ2
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 Homo sapiens

General Information

General Information Comment 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