NADH Dehydrogenase Ubiquinone 1 Alpha Subcomplex 8 (NDUFa8)

The NDUFA8 open reading frame includes 519 bp and encodes 172 amino acids. The human cDNA sequence shows 86.2% identity with the bovine sequence, whereas the human NDUFA8 amino acid sequence is 87.8% similar to its bovine counterpart. A multiple tissue blot revealed the highest NDUFA8 mRNA expression in human heart, skeletal muscle, and fetal heart. Mutation analysis of the NDUFA8 fibroblast cDNA in 20 patients with isolated enzymatic complex I deficiency in cultured skin fibroblasts revealed 2 polymorphisms, one within the open reading frame and the other in the 3-prime untranslated region of the NDUFA8 cDNA sequence. The allelic frequency of both polymorphisms were similar in controls and complex I-deficient patients.