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 Analyses (11)

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Related Experiments (1)

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See Also (1)

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disease · KG edge: implicated_in

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