MT-ND2 mitochondrially encoded NADH dehydrogenase 2
Gene ID: 4536, updated on 3-Nov-2024Gene type: protein coding
Also known as: MTND2; ND2
- See all available tests in GTR for this gene
- Go to complete Gene record for MT-ND2
- Go to Variation Viewer for MT-ND2 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; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. [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 (4470..5511)
- 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-ND2 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.