Literature summary for 7.1.1.2 extracted from

Lebon, S.; Minai, L.; Chretien, D.; Corcos, J.; Serre, V.; Kadhom, N.; Steffann, J.; Pauchard, J.Y.; Munnich, A.; Bonnefont, J.P.; Roetig, A.
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome (2007), Mol. Genet. Metab., 92, 104-108.

Search for more literature for 7.1.1.2

Application

Application	Comment	Organism
medicine	identification of a NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	mutation in the first intron of the NDUFS7 gene (c.17-1167 C > G), creates a strong donor splice site resulting in the generation of a cryptic exon, shows marked decrease of fully assembled complex I	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
muscle	severe decrease of complex I activity in a patient with Leigh syndrome and an elevated complex IV/complex I activity ratio	Homo sapiens	-
skin fibroblast	complex I activity in cultured skin fibroblasts is in the normal range in a patient with Leigh syndrome, but complex IV/complex I activity ratio is significantly elevated and complex I/citrate synthase is decreased	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
complex I	-	Homo sapiens
NADH-ubiquinone oxidoreductase	-	Homo sapiens

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Release 2023.1 (January 2023)