Literature summary for 1.5.5.1 extracted from

Goodman, S.I.; Binard, R.J.; Woontner, M.R.; Frerman, F.E.
Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene (2002), Mol. Genet. Metab., 77, 86-90.

Search for more literature for 1.5.5.1

Cloned(Commentary)

Cloned (Comment)	Organism
gene ETF:QO, DNA and amino acid sequence determination and analysis, localization on chromosome 4q33, 13 exons	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D218N	heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens
G611E	homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens
I31T	neutral naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no effect on enzyme activity or expression, occurs together with other mutantions, overview	Homo sapiens
L262F	homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens
L334P	homo- or heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts	Homo sapiens
L334P/Q222P	mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II	Homo sapiens
M1T	homo- and heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens
additional information	determination and analysis of diverse naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, phenotypic effects, overview	Homo sapiens
P562L	heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens
R41X/L138R	mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II	Homo sapiens
R452K	homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II	Homo sapiens
S82F/D218N	mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts	Homo sapiens
S82P/H346R	mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens
W182X/P456L	mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts	Homo sapiens
Y49C	heterozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme deficiency leads to glutaric acidemia type II	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q16134	ETF-QO; patients suffering glutaric acidemia type II due to a mutational defect in the ETF:QO gene	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme deficiency leads to glutaric acidemia type II	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
electron transfer flavoprotein:ubiquinone oxidoreductase	-	Homo sapiens
ETF:QO	-	Homo sapiens

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Release 2023.1 (January 2023)