Literature summary for 2.5.1.39 extracted from

Scalais, E.; Chafai, R.; Van Coster, R.; Bindl, L.; Nuttin, C.; Panagiotaraki, C.; Seneca, S.; Lissens, W.; Ribes, A.; Geers, C.; Smet, J.; De Meirleir, L.
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2) (2013), Eur. J. Paediatr. Neurol., 17, 625-630.

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Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
S109N	naturally occurring lethal mutation causing a severe phenotype, CoQ10 synthesis is significantly decreased in cultured skin fibroblasts, a kidney sample reveals focal segmental glomerulosclerosis lesions, The affected glomeruli demonstrate mesangial hypercellularity, segmental sclerosis of glomerular capillaries, enlarged podocytes with intracytoplasmic hyaline vacuoles and adhesions to the Bowman's capsule, podocytes are enlarged and show extensive foot process effacement, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q96H96	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Homo sapiens	-
fibroblast	CoQ10 synthesis is significantly decreased in cultured skin fibroblasts of mutant S109N	Homo sapiens	-
kidney	-	Homo sapiens	-
skeletal muscle	-	Homo sapiens	-
skin	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
COQ2	-	Homo sapiens
para-hydroxybenzoate-polyprenyl transferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	CoQ10 deficiency caused by mutation S109N in para-hydroxybenzoate-polyprenyl transferase, COQ2, leads to early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome, phenotype and clinical features, detailed overview	Homo sapiens

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Release 2023.1 (January 2023)