Home
>
Product
>
Antibody
>
Rabbit Anti-NDUFAF4 antibody
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009].
Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.
Subunit:
Binds calmodulin. Interacts with NDUFAF3.
Subcellular Location:
Mitochondrion.
Post-translational modifications:
Phosphorylated on serine. Prolactin stimulate serine phosphorylation.
DISEASE:
Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the NDUFAF4 family.
SWISS:
Q9P032
Gene ID:
29078
Database links:
Entrez Gene: 29078 Human
Omim: 252010 Human
SwissProt: Q9P032 Human
Unigene: 512144 Human
|
|
