MT-ND1 mitochondrially encoded NADH dehydrogenase 1
Gene ID: 4535, updated on 3-Nov-2024Gene type: protein coding
Also known as: MTND1; ND1
- See all available tests in GTR for this gene
- Go to complete Gene record for MT-ND1
- Go to Variation Viewer for MT-ND1 variants
Summary
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial membrane. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | not available |
| Leber optic atrophy MedGen: C0917796OMIM: 535000GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview | not available |
Genomic context
- Sequence:
- Chromosome: MT; NC_012920.1 (3307..4262)
- 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-ND1 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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