Ndufs4 Gene Summary [Mouse]
Enables NADH dehydrogenase (ubiquinone) activity. Acts upstream of or within several processes, including adult walking behavior; mitochondrial respiratory chain complex I assembly; and nervous system development. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study Leigh disease and mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in Leigh disease and nuclear type mitochondrial complex I deficiency 1. Orthologous to human NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ndufs4 |
| Official Name | NADH:ubiquinone oxidoreductase core subunit S4 [Source:MGI Symbol;Acc:MGI:1343135] |
| Ensembl ID | ENSMUSG00000021764 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase core subunit S4 |
| Synonyms | 18 kda subunit of complex i, 6720411N02RIK, AQDQ, C1-18k, CI-18, CI-18 kDa, CI-AQDQ, Complex I-18 kDa, MC1DN1, NADH:ubiquinone oxidoreductase core subunit S4, NADH:ubiquinone oxidoreductase subunit S4 |
| Species | Mouse, Mus musculus |
| Orthologies |
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 mouse Ndufs4 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
- protein binding
- NADH2 dehydrogenase (ubiquinone)
- NADH dehydrogenase ubiquinone Fe-S protein 4
Pathways
Biological processes and signaling networks where the Ndufs4 gene in mouse 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
- dyspnea
- hypotonia
- nuclear type 1 mitochondrial complex I deficiency
- obesity
- Leigh syndrome
- COVID-19
- seizures
- multiple sclerosis
- chromophobe renal cell carcinoma
- chromophobe renal cancer
phenotypes
- Purkinje cell degeneration
- abnormal blood homeostasis
- abnormal body weight
- abnormal brain vasculature morphology
- abnormal breathing pattern
- abnormal cerebellum fastigial nucleus morphology
- abnormal cerebellum lobule morphology
- abnormal circulating amino acid level
- abnormal emotion/affect behavior
- abnormal enzyme/coenzyme activity
- abnormal eye electrophysiology
- abnormal gait
- abnormal medulla oblongata morphology
- abnormal mitochondrial ATP synthesis coupled electron transport
- abnormal mitochondrial crista morphology
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal muscle tone
- abnormal nest building behavior
- abnormal neuron morphology
- abnormal neuron physiology
- abnormal olfactory bulb external plexiform layer morphology
- abnormal posture
- abnormal pre-Botzinger complex physiology
- abnormal pulmonary ventilation
- abnormal respiratory electron transport chain
- abnormal sensory capabilities/reflexes/nociception
- abnormal skin appearance
- abnormal vision
- alopecia
- apnea
- astrocytosis
- ataxia
- axonal spheroids
- blepharoptosis
- blindness
- brain vacuoles
- brainstem hemorrhage
- cataract
- circling
- decreased aggression
- decreased body length
- decreased body size
- decreased body temperature
- decreased grooming behavior
- decreased heart rate
- decreased pulmonary respiratory rate
- decreased startle reflex
- decreased vocalization
- environmentally induced seizures
- focal hair loss
- gliosis
- head tilt
- hunched posture
- hyperekplexia
- hypoactivity
- hyporesponsive to tactile stimuli
- hypotonia
- impaired balance
- impaired coordination
- impaired righting response
- impaired swimming
- increased circulating carnitine level
- increased circulating glycine level
- increased circulating phenylalanine level
- intracranial hemorrhage
- kyphosis
- lethargy
- limb grasping
- microgliosis
- neurodegeneration
- neuron degeneration
- no abnormal phenotype detected
- optic nerve atrophy
- oxidative stress
- positive geotaxis
- postnatal growth retardation
- premature death
- premature hair loss
- respiratory distress
- retropulsion
- seizures
- sparse hair
- spongiform encephalopathy
- straub tail
- tail dragging
- tremors
- trunk curl
role in cell
- apoptosis
- formation
- abnormal morphology
- degeneration
- morphology
- loss
- development
- cycling
- sprouting angiogenesis by
- cycling 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
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ndufs4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- reactive oxygen species metabolic process
- transmembrane transport
- regulation of protein phosphorylation
- mitochondrial electron transport, NADH to ubiquinone
- positive regulation of fibroblast proliferation
- response to cAMP
- cellular respiration
- mitochondrial respiratory chain complex I assembly
- brain development
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- 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