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Cancer cells displayed weak to moderate cytoplasmic staining. A few cases of liver cancers, cervical squamous cell carcinomas and urothelial carcinomas were strongly stained. Most lymphoma and skin cancers were negative.
GENE INFORMATION
Gene name
NDUFAF1 (HGNC Symbol)
Synonyms
CGI-65, CIA30
Description
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 (HGNC Symbol)
Entrez gene summary
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) 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. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]