ABCA12
ABCA12 is a gene that provides instructions for making a protein involved in the transport of lipids, which are fats essential for various cellular functions. This protein is particularly important in the skin, where it helps maintain the barrier that protects against environmental damage and prevents water loss.
Mutations in the ABCA12 gene can lead to skin disorders, such as ichthyosis, characterized by dry, scaly skin. These mutations disrupt the normal function of the protein, affecting lipid transport and resulting in compromised skin barrier function. Understanding ABCA12 is crucial for developing treatments for related skin conditions.