Abstract
We have characterized the human gene NDUFA5 encoding a 13-kDa subunit of the mitochondrial respiratory chain complex I (NADH: ubiquinone oxidoreductase). The gene contains 5 exons and 4 introns, and spans 14 kb of genomic DNA. In the untranscribed region we observed potential transcription factor binding sites. We determined a single nucleotide variant (C/T) at –318, and its frequency in the German population. The functional gene was localised by FISH to 7q31 and by radiation hybrid panel near marker D7S648 in YAC 883_a_2.
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