NDUFS6

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial is an enzyme that in humans is encoded by the NDUFS6 gene.^[5][6]

NDUFS6
Identifiers
Aliases	NDUFS6, CI-13kA, CI-13kD-A, CI13KDA, NADH:ubiquinone oxidoreductase subunit S6, MC1DN9
External IDs	OMIM: 603848; MGI: 3648526; HomoloGene: 37935; GeneCards: NDUFS6; OMA:NDUFS6 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p15.33 Start 1,801,407 bp[1] End 1,816,048 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 D3 Start 80,811,145 bp[2] End 80,811,492 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii apex of heart right auricle of heart gingival epithelium mucosa of transverse colon left ventricle endothelial cell muscle of thigh gastrocnemius muscle right ventricle Top expressed in embryo embryo morula blastocyst yolk sac human kidney skeletal muscle tissue proximal tubule adrenal gland colon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function electron transfer activity NADH dehydrogenase (ubiquinone) activity Cellular component mitochondrial inner membrane respirasome membrane mitochondrion mitochondrial respiratory chain complex I Biological process muscle contraction mitochondrion morphogenesis reproductive system development fatty acid metabolic process multicellular organism growth multicellular organism aging mitochondrial respiratory chain complex I assembly respiratory electron transport chain mitochondrial electron transport, NADH to ubiquinone Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4726 623286 Ensembl ENSG00000145494 ENSMUSG00000083820 UniProt O75380 n/a RefSeq (mRNA) NM_004553 XM_036153659 RefSeq (protein) NP_004544 n/a Location (UCSC) Chr 5: 1.8 – 1.82 Mb Chr 7: 80.81 – 80.81 Mb PubMed search [3] [4]
Wikidata
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Function

The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. The iron-sulfur protein (IP) fraction is made up of 7 subunits, including NDUFS6.^[6]

Clinical significance

Mutations in the NDUFS6 gene are associated with mitochondrial Complex I deficiency, and are inherited in an autosomal recessive manner. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders.^[7][8] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible.^[9] However, the majority of cases are caused by mutations in nuclear-encoded genes.^[10][11] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.^[12]

In NDUFS6 mutations the presentation is typically a neonatal lactic acidosis that is swiftly fatal, coupled with multi-system failure.^[7][9][12]

See also

• NDUFS1