Recombinant Human UPF0551 protein C8orf38, mitochondrial (C8orf38)

1. NDUFAF6 encodes a complex I assembly factor and mutations result in complex I deficiency, Leigh syndrome or Acadian variant Fanconi syndrome. Human NDUFAF6 is a mitochondria-targeted 333-amino acid protein belonging to the family of squalene and phytoene synthases. PMID: 28476317
2. This paper confirms NDUFAF6 as a genuine morbid gene and proposes the coupling of exome sequencing with mRNA analysis as a method useful for enhancing the exome sequencing detection rate when the simple application of classical inheritance models fails. PMID: 27623250
3. 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 PMID: 27466185
4. 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. PMID: 23509070
5. C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate PMID: 22019594

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HGNC: 28625

OMIM: 252010

KEGG: hsa:137682

STRING: 9606.ENSP00000379430

UniGene: Hs.729144