NDUFS8

NDUFS8 Gene Summary

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

Details

Type
Retained Intron
Official Symbol
NDUFS8
Official Name
NADH:ubiquinone oxidoreductase core subunit S8 [Source:HGNC Symbol;Acc:HGNC:7715]
Ensembl ID
ENSG00000110717
Bio databases IDs NCBI: 4728 Ensembl: ENSG00000110717
Aliases NADH:ubiquinone oxidoreductase core subunit S8, complex I 23kDa subunit, NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Synonyms
CI-23k,CI-23kD,MC1DN2,NADH dehydrogenase (ubiquinone) Fe-S protein 8,NADH:ubiquinone oxidoreductase core subunit S8,TYKY
Species
Human, Homo sapiens

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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • 4Fe-4S dicluster domain
  • 4Fe-4S double cluster binding domain
  • NADH-quinone oxidoreductase, chain I
  • NADH2 dehydrogenase
  • 4Fe-4S binding domain
  • enzyme
  • protein binding
  • NADH2 dehydrogenase (ubiquinone)

Pathways

Biological processes and signaling networks where the NDUFS8 gene 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.
binds
  • ESR1
  • ESR2
  • CDC42
  • DHX30
  • LRPPRC
  • EFTUD2
  • HSCB
  • TRUB2
  • NDUFS2
  • AIFM1
disease
  • nuclear type 2 mitochondrial complex I deficiency
  • bipolar disorder
  • adult acute myeloid leukemia
  • mitochondrial disorder
  • Leigh syndrome
  • chronic obstructive pulmonary disease
regulated by
  • fat-1
  • UQCC3
  • WNT3A
  • metribolone
  • Immunoglobulin
  • SOCS1
  • APP
  • PITX2
  • PPARGC1A
  • STK11
regulates
  • Mitochondrial ETC 1
role in cell
  • survival
  • autophagy in
  • autophagy

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
  • myelin enriched fraction
  • Mitochondria
  • mitochondrial matrix
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the NDUFS8 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • response to oxidative stress
  • transmembrane transport
  • mitochondrial electron transport, NADH to ubiquinone
  • mitochondrial respiratory chain complex I assembly
  • aerobic respiration
  • mitochondrial ATP synthesis coupled proton transport

CELLULAR COMPONENT

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

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • NADH dehydrogenase activity
  • protein binding
  • metal ion binding
  • NADH dehydrogenase (ubiquinone) activity
  • 4 iron, 4 sulfur cluster binding

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.