EC Number   |
General Information |
Reference |
|---|
   2.3.1.296 | malfunction |
enzyme invalidation in mice induces a lethal phenotype with major defects in the epidermal barrier |
753772 |
| 2.3.1.296 | malfunction |
mutations in in the enzyme gene cause autosomal recessive congenital ichthyosis. Enzyme-deficient mice show aberrant keratinocyte differentiation, defective acylceramide biosynthesis and impaired epidermal permeability barrier |
754841 |
| 2.3.1.296 | malfunction |
PNPLA1 is the causative genes of congenital ichthyosis |
752823 |
| 2.3.1.296 | malfunction |
the enzyme activity is impaired in ichthyosis-causative mutants |
754842 |
| 2.3.1.296 | metabolism |
the enzyme acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to omega-hydroxy fatty acid in ceramide, thus giving rise to omega-O-acylceramide |
752823 |
| 2.3.1.296 | metabolism |
the enzyme catalyzes the final step in omega-O-acylceramide biosynthesis |
754365 |
| 2.3.1.296 | physiological function |
the enzyme has an irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier |
753772 |
| 2.3.1.296 | physiological function |
the enzyme is essential for the generation of the skin barrier lipid omega-O-acylceramide |
754842 |
| 2.3.1.296 | physiological function |
the enzyme plays a crucial role in the biosynthesis of omega-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function |
752823 |
