Background information
Belonging to the CAF17 subfamily of the gcvT family, C1orf69 is a 356 amino acid mitochondrial protein that is required for normal heme synthesis. Heme synthesis is dependent upon receiving iron through iron sulfur (Fe-S) cluster biogenesis proteins such as C1orf69, which is specifically thought to assemble Fe-S clusters for mitochondrial aconitase and lipoate synthase. In zebrafish, deficiency of C1orf69 causes anemia. The gene encoding C1orf69 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1.