MT-ND4 mitochondrially encoded NADH dehydrogenase 4
Gene ID: 4538, updated on 2-Nov-2024Gene type: protein coding
Also known as: MTND4; ND4
- See all available tests in GTR for this gene
- Go to complete Gene record for MT-ND4
- Go to Variation Viewer for MT-ND4 variants
Summary
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leber optic atrophy MedGen: C0917796OMIM: 535000GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview | See labs |
Genomic context
- Sequence:
- Chromosome: MT; NC_012920.1 (10760..12137)
- Total number of exons:
- 0
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MT-ND4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- Variation ViewerRelated Variants
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