Queston #19757Note

Mutations of the ATP7B gene on chromosome 13 can lead to errors of copper transport leading to an accumulation of copper in the liver, brain, kidneys, and cornea 

———————————————

HMBS gene mutation is seen in acute intermittent porphyria 

ATP7A gene mutation is seen in Menke’s disease 

ABCD1 gene mutation is seen in adrenoluekodystrophy 

GFAP mutation is seen in Alexander disease