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
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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