In a day and age when productivity drives society, it is strange to own genes that seem to be of no use. There they lie in our genome, like sunken ships that have been washed ashore. And, just like wrecks, they are part of the memory of ancient times. This said, though they are inactive genes today, they are still able to reveal precious information about the past of the human species.
Piezo1: gene coding for a protein that is essential for the coordination of cellular response in the event of muscle damage. This protein could promote muscle regeneration in Duchenne muscular dystrophy.
Corresponding protein in UniProtKB/Swiss-Prot
BCKDK : This gene is involved in a form of autism, which can be treated with a certain diet.
CLCN7: gene coding for a protein involved in chloride transport. When defective, this gene causes marble bone disease (osteopetrosis), a rare genetic disease characterized by abnormally dense bones.
MC1R: This gene is involved in the colour of skin, hair (red) and eyes. Curiously, it also influences the efficiency of anaesthetics used by dentists.
Corresponding protein in UniProtKB/Swiss-Prot
FHOD1: This gene is involved in the formation of intracellular transport vesicles.
FTO: This gene is involved in obesity.
MRP8: This gene is involved in the quality of our earwax. Europeans have wet wax while Japanese have dry wax.
Protein Spotlight: Of earwax and migration
Corresponding protein in UniProtKB/Swiss-Prot
HBA2: This gene codes for hemoglobin, the protein which transports oxygen in our blood.
Corresponding protein in UniProtKB/Swiss-Prot