NDUFAF1 Antibody

1. a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. PMID: 24963768
2. oncogenic K-Ras is able to induce significant alterations in mitochondrial protein expression, and identified NDUFAF1 as an important molecule whose low expression contributes to mitochondrial dysfunction induced by K-Ras. PMID: 25714130
3. NDUFAF1 is an important protein for the assembly/stability of complex I (NADH:ubiquinone oxidoreductase). PMID: 16218961
4. Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1. PMID: 17344420
5. the involvement of NDUFAF1 in the assembly process could be indirect rather than direct via the binding to assembly intermediates PMID: 17383918
6. CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease PMID: 17557076

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HGNC: 18828

OMIM: 606934

KEGG: hsa:51103

STRING: 9606.ENSP00000260361

UniGene: Hs.106529