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MT-ND5

Chr mitochondria

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

Aliases:
ND5, NAD5
OMIM: 516005 ↗NCBI: 4540 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    MITOCHONDRIAL

  • Mitochondrial disorders

    MITOCHONDRIAL

  • Undiagnosed metabolic disorders

    MITOCHONDRIAL

  • Optic neuropathy

    MITOCHONDRIAL

  • Paediatric or syndromic cardiomyopathy

    MITOCHONDRIAL

  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL

  • Hypertrophic cardiomyopathy

    MITOCHONDRIAL

Disease associations (Open Targets)

  • Leber hereditary optic neuropathy

    0.75

  • Leigh syndrome

    0.74

  • MELAS syndrome

    0.73

  • MERRF

    0.68

  • mitochondrial disease

    0.67

  • MERRF syndrome

    0.64

  • MELAS

    0.64

  • type 2 diabetes mellitus

    0.61

  • diabetes mellitus

    0.58

  • Isolated cytochrome C oxidase deficiency

    0.51

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

Protein function (UniProt)

NADH-ubiquinone oxidoreductase chain 5

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:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827)

Diseases associated with MT-ND5

Curated MONDO disease pages that list MT-ND5 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.