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NDUFAF6 encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. Additionally we are shipping and many more products for this protein.
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Affected kidney and lung showed specific loss of the mitochondria-located NDUFAF6 isoform and ultrastructural characteristics of mitochondrial dysfunction. Accordingly, affected tissues had defects in mitochondrial respiration and complex I biogenesis that were corrected with NDUFAF6 cDNA transfection. Our results demonstrate that the Acadian variant of Fanconi Syndrome results from mitochondrial respiratory chain complex
In a forward genetic screen to identify genes that cause neurodegeneration, we identified sicily, the Drosophila melanogaster homologue of human C8ORF38, the loss of which causes Leigh syndrome.
C8orf38 is a crucial factor required for the translation and/or integration of ND1 (show MT-ND1 Proteins) into an early-stage assembly intermediate
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.
UPF0551 protein C8orf38, mitochondrial
, putative phytoene synthase
, UPF0551 protein C8orf38 homolog, mitochondrial