MT-ND4L

Chr mitochondria

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

Aliases:: ND4L, NAD4L

OMIM: 516004 ↗NCBI: 4539 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MT-ND4L · P03901

v62025-08-01

Predicted Aligned Error matrix for MT-ND4L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.6/ 100

Confident

98 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)41%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
MITOCHONDRIAL
Mitochondrial disorders
MITOCHONDRIAL
Undiagnosed metabolic disorders
MITOCHONDRIAL
Optic neuropathy
MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder
MITOCHONDRIAL

Disease associations (Open Targets)

Leber hereditary optic neuropathy
0.67
type 2 diabetes mellitus
0.61
diabetes mellitus
0.58
mitochondrial disease
0.57
MELAS syndrome
0.56
Isolated cytochrome C oxidase deficiency
0.52
leigh syndrome due to mitochondrial complex iv deficiency
0.52
MERRF syndrome
0.51
MERRF
0.51
Mitochondrial myopathy
0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADH-ubiquinone oxidoreductase chain 4L

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the enzyme membrane arm which is embedded in the lipid bilayer and involved in proton translocation (PubMed:28844695)