What genes are related to harlequin ichthyosis?

Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene makes a protein that is essential for the normal development of skin cells. This protein appears to play a major role in the transport of lipids (fats) in the outermost layer of skin (the epidermis).

Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. The loss of functional ABCA12 protein disrupts the normal development of the epidermis, preventing the skin from forming an effective barrier and resulting in the hard, thick scales characteristic of harlequin ichthyosis.

How do people inherit harlequin ichthyosis? This condition is likely inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... more.

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