NDUFS6 Gene Summary [Human]

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

Details

Type
Protein Coding
Official Symbol
NDUFS6
Official Name
NADH:ubiquinone oxidoreductase subunit S6 [Source:HGNC Symbol;Acc:HGNC:7713]
Ensembl ID
ENSG00000145494
Bio databases IDs NCBI: 4726 Ensembl: ENSG00000145494
Aliases NADH:ubiquinone oxidoreductase subunit S6, complex I 13kDa subunit A, NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
Synonyms BC059730, CI-13kA, CI-13kD-A, IP13, LOC100912599, MC1DN9, Nadh ubiquinone oxidoreductase 13 kda a subunit, NADH:ubiquinone oxidoreductase core subunit S6, NADH:ubiquinone oxidoreductase subunit S6, Ndufs6l1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NDUFS6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme
  • Zinc-finger domain

Pathways

Biological processes and signaling networks where the NDUFS6 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Huntington disease
  • hereditary disorder
  • chromophobe renal cell carcinoma
  • chromophobe renal cancer
  • nuclear type 9 mitochondrial complex I deficiency
  • mitochondrial disorder
  • Mitochondrial complex I deficiency
  • fibrosis
  • ischemic stroke
  • lethal neonatal mitochondrial complex I deficiency
regulated by
regulates
  • reactive oxygen species
  • adenosine triphosphate
  • fatty acid
  • Mitochondrial ETC 1
  • hydroxyacylcarnitine
role in cell
  • proliferation
  • differentiation
  • growth
  • organization
  • cell division
  • abnormal morphology
  • senescence in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular space
  • Mitochondria
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NDUFS6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • transmembrane transport
  • mitochondrial electron transport, NADH to ubiquinone
  • aerobic respiration
  • mitochondrial ATP synthesis coupled proton transport

Cellular Component

Where in the cell the gene product is active
  • respiratory chain complex I
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • electron carrier activity
  • NADH dehydrogenase (ubiquinone) activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.