Harlequin Ichthyosis Research Paper

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Recommended: Harlequin ichthyosis genetics

Harlequin Ichthyosis is a rare genetic mutation that affects the thickness of the skin. In order for a child to inherit this mutation, both of their parents must be carriers of the autosomal recessive gene. This gene will affect chromosome 2q35 by the deletion mutation. This mutation causes a changes in the ABCA12 gene. This gene produces the ABCA12 protein, which carries lipids to the epidermis of the skin. Without the ABC12 protein, the epidermis will not get the lipids needed to hold the skin together, which in result will cause water lose in the body. Not only is the ABCA12 protein used in the transportation of lipids, it is also a key component in the tissue of many major organs. For example the lungs, liver, and the stomach.

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