Copper is essential for activity of numerous proteins and for life.
Copper deficiency has severe consequences and excess is highly toxic.
Thus, all living organisms have evolved exact mechanisms for maintaining copper homeostasis through proteins that transport and sequester copper. Little is known, however, about the genes that regulate this fine balance in humans. A main project in my laboratory is the study the molecular biology and function of the Menkes disease gene, an important gene in mammalian copper homeostasis. Menkes disease is an X-linked recessive disorder characterized by severe neurological impairment and early death related to improper copper transport and efflux. We cloned the Menkes disease gene using a positional cloning approach .