Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Jul 2025]
A study in mice demonstrated that the MT-ND4L was downregulated in endothelial cells during myocardial infarction progression, as identified through single-cell RNA sequencing analysis [Mao et al. DOI:10.1016/j.bbrc.2025.151820]. In a separate human study, the MT-ND4L was also identified as a downregulated mRNA in sepsis patients compared to healthy controls using RNA-sequencing of serum samples [Yu et al. DOI:10.1016/j.heliyon.2023.e15034]. A study in Piophila casei sequenced its complete mitochondrial genome, identifying the MT-ND4L as a protein-coding gene exhibiting variability (Pi = 0.202) among the 13 PCGs in a 26-species comparison [Bi et al. DOI:10.3390/genes14040883]. This genomic resource, including the MT-ND4L, provides a reference for accurate species identification and phylogenetic analysis, which is significant for research in forensic medicine.