Menke's syndrome

The gene name: ATPase, Cu2+ transporting, alphapolypeptides [Homo sapiens]

The gene ID: 538

This gene encodes a protein which functions in copper transport across membranes where eventually mutations of this particular gene result in the Purkinje cell dendrites of the brain & Menke's syndrome results.

Menke's syndrome is an inborn error of "Metabolism", & it decreases the cell's ability to absorb Cu.

This causes severe cerebral degeneration and arterial changes-resulting in death in infants. Interestingly enough, the disease can be diagnosed as easily as by merely gazing upon a Menke's syndrome victim's scalp/head of hair-which appears to be whitish as well as kinked under a microscope.

This syndrome is transmitted as an X-linked recessive trait. If administered within the first months of life, Cu histidinate is sometimes effective in increasing the life expectancy from three to 13 yrs. of age. This treatment has been very helpful with mice-giving scientists a model organism for gathering insight in how to better help human beings, and their struggle for copper transport mechanisms.