MT-ND1 mitochondrially encoded NADH dehydrogenase 1

Gene ID: 4535, updated on 3-Nov-2024
Gene type: protein coding
Also known as: MTND1; ND1

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 MedGen: C0162671OMIM: 540000GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	See labs
Leber optic atrophy MedGen: C0917796OMIM: 535000GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview	See labs

Genomic context

Sequence:: Chromosome: MT; NC_012920.1 (3307..4262)

Total number of exons:: 0

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
Variation Viewer
Related Variants

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