FRAS1 gene encodes an extracellular matrix (ECM) protein, which regulates epidermal-basement membrane adhesion and organogenesis during development. This protein is predicted to be 4,008 amino acids long with an N-terminal signal peptide followed by VWFC domains, furin-like domains, an NG2-like region, CALX-beta motifs, a transmembrane domain, and an intracellular tail. Alternative splicing leads to multiple variants.
Mutations in FRAS1 gene cause Fraser syndrome 1 and renal hypodysplasia/aplasia 3.