This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.
Subcellular Location:
Isoform 1: Mitochondrion inner membrane. Note: Peripherally localized on the matrix face of the mitochondrial inner membrane. Ref.7
Isoform 2: Cytoplasm. Nucleus
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 NDUFAF6 family.
SWISS:
Q330K2
Gene ID:
137682
Database links:
Entrez Gene: 137682 Human
Entrez Gene: 523017 Cow
Entrez Gene: 76947 Mouse
Entrez Gene: 297821 Rat
Omim: 612392 Human
SwissProt: A7YVD7 Cow
SwissProt: Q330K2 Human
SwissProt: A2AIL4 Mouse
SwissProt: D3ZN43 Rat
Unigene: 729144 Human
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