Disease name
Isolated NADH-CoQ reductase deficiency
 Isolated NADH-CoQ reductase deficiency

Marker gene
Gene symbol Chromosome location Protein name
C20ORF7 20p12.1 Probable methyltransferase C20orf7, mitochondrial
FOXRED1 11q24.2 FAD-dependent oxidoreductase domain-containing protein 1
NDUFA1 Xq24 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
NDUFA11 19p13.3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11
NDUFA2 5q31.2 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
NDUFAF2 5q12.1 Mimitin, mitochondrial
NDUFAF4 6q16.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
NDUFS2 1q23 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
NDUFS3 11p11.2 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
NDUFS4 5q11.2 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
NDUFV1 11q13 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
NUBPL 14q12 Iron-sulfur protein NUBPL

ICD 10 code
E88.8

MIM number
252010

Synonym
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex 1 deficiency

Summary
Under development.