chthyosis tagged posts

PNPLA1 is involved in acylceramide synthesis.

The gene responsible for generating acylceramide, the key lipid in forming the skin barrier that protects us from pathogens, allergens and other harmful substances. This finding could prove crucial in developing medicines for treating atopic dermatitis and ichthyosis. Defects of the skin barrier can trigger skin diseases such as atopic dermatitis, which afflicts ~10% of the population in some developed countries. Acylceramide, a lipid only found in skin, plays a pivotal role in forming this barrier. Although most of the genes needed to generate this special lipid have been recently identified, the gene responsible in the final step to produce acylceramide has been missing...