gene 526 words KG: MTND1
Contents

MT-ND1 Gene - Mitochondrial NADH Dehydrogenase Subunit 1

🧬 Gene Info
Gene SymbolMT
Full NameND1 Gene - Mitochondrial NADH Dehydrogenase Subunit 1
AliasesMTND1
FunctionCytochrome b is a key component of Complex III (ubiquinol-cytochrome c reductase), which catalyzes the transfer of electrons from ubiquinol to cytochrome c.
GeneCardsMT
Human Protein AtlasMT
Complex I subunitForms part of the membrane arm of NADH dehydrogenase
Electron transferTransfers electrons from NADH to ubiquinone
Proton pumpingContributes to proton gradient generation
Evolutionary originRetained from bacterial ancestor of mitochondria
ConservationHighly conserved across eukaryotes
Primary mutationsm.3460G>A (ND1) is a common cause of LHON[@dimauro2003]
Penetrance~40-50% of males and 10-15% of females with mutation develop optic neuropathy
Age of onsetTypically 15-35 years
Selective vulnerabilityRetinal ganglion cells are particularly susceptible
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Related Hypotheses (15)

CYP46A1 Overexpression Gene Therapy
Score: 0.92
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Near-infrared light therapy stimulates COX4-dependent mitoch
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TFAM overexpression creates mitochondrial donor-recipient gr
Score: 0.73

Related Analyses (11)

RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Mitochondrial transfer between astrocytes and neurons
neurodegeneration · archived
Senolytic therapy for age-related neurodegeneration
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
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Related Experiments (1)

Sirtuin Pathway Dysfunction Validation in Parkinson's Diseas
clinical · proposed · Score: 0.40

See Also (1)

Neurodegeneration
disease · KG edge: implicated_in

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