NDUFA8 Gene Summary [Human]

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Details

Type
Protein Coding
Official Symbol
NDUFA8
Official Name
NADH:ubiquinone oxidoreductase subunit A8 [Source:HGNC Symbol;Acc:HGNC:7692]
Ensembl ID
ENSG00000119421
Bio databases IDs NCBI: 4702 Ensembl: ENSG00000119421
Aliases NADH:ubiquinone oxidoreductase subunit A8, complex I PGIV subunit
Synonyms 0610033L03Rik, Aa2-258, CI-19KD, CI-PGIV, Complex I-19KD, Complex I-PGIV, MC1DN37, NADH:ubiquinone oxidoreductase subunit A8, PGIV
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 NDUFA8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CXC motif
  • binding protein
  • NADH2 dehydrogenase
  • CHCH domain
  • enzyme
  • protein binding
  • NADH2 dehydrogenase (ubiquinone)

Pathways

Biological processes and signaling networks where the NDUFA8 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
  • nuclear type 37 mitochondrial complex I deficiency
  • malaria
  • mitochondrial disorder
  • insulin resistance
regulated by
role in cell
  • 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
  • Mitochondria
  • mitochondrial intermembrane space
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NDUFA8 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
  • 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
  • mitochondrial intermembrane space
  • respiratory chain complex I
  • mitochondrion
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • 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.