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Rabbit Anti-MTND4L antibody
NADH:ubiquinone oxidoreductase (complex I) is an extremely complicated multiprotein complex located in the inner mitochondrial membrane. Human complex I is important for energy metabolism because its main function is to transport electrons from NADH to ubiquinone, which is accompanied by translocation of protons from the mitochondrial matrix to the intermembrane space. Human complex I appears to consist of 41 subunits. A small number of complex I subunits are the products of mitochondrial genes (subunits 1-7), while the remainder are nuclear encoded and imported from the cytoplasm. NADH dehydrogenase subunit 4L (ND4L) is most likely a component of the hydrophobic protein fragment of Complex I. Mutations in the gene encodiing for ND4 are implicated in Leber hereditary optic neuropathy, a rare condition that can cause loss of central vision.
Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Subcellular Location:
Mitochondrion membrane.
DISEASE:
Defects in MT-ND4L are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Similarity:
Belongs to the complex I subunit 4L family.
SWISS:
P03901
Gene ID:
4539
Database links:
Entrez Gene: 4539 Human
Omim: 516004 Human
SwissProt: P03901 Human
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