NDUFB7 Chromosome 19

NADH:ubiquinone oxidoreductase subunit B7

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

NADH:ubiquinone oxidoreductase supernumerary subunits

Locus Type

gene with protein product

Location

19p13.12

Ensembl

ENSG00000099795

Associated Conditions (3)

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

Mitochondrial complex I deficiency

nuclear type 39

Key Variants

RS2074094096

Likely pathogenic

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes, Mitochondrial complex I deficiency, nuclear type 39

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2074094096	Health Risk	Likely pathogenic	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes, Mitochondrial complex I deficiency, nuclear type 39