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Rabbit Anti-NDUFS4 antibody
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. [provided by RefSeq, Jul 2008].
Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
Subunit:
Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.
Subcellular Location:
Mitochondrion inner membrane.
DISEASE:
Defects in NDUFS4 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Similarity:
Belongs to the complex I NDUFS4 subunit family.
SWISS:
O43181
Gene ID:
4724
Database links:
Entrez Gene: 327136 Cow
Entrez Gene: 4724 Human
Entrez Gene: 17993 Mouse
Entrez Gene: 499529 Rat
Omim: 602694 Human
SwissProt: Q02375 Cow
SwissProt: O43181 Human
SwissProt: Q9CXZ1 Mouse
SwissProt: Q5XIF3 Rat
Unigene: 528222 Human
Unigene: 253142 Mouse
Unigene: 203141 Rat
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