Fraser Syndrome Protein 1 (FRAS1)

FRAS1 encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. The human and mouse FRAS1 proteins share 85% amino acid identity. FRAS1 also shares similarity with sea urchin Ecm3, a component of ECM fibers that undergo reorganization during gastrulation. Analysis of a multiple tissue expression array showed expression of FRAS1 in many adult tissues, with highest levels in kidney, pancreas, and thalamus. Relatively high expression was also detected in fetal kidney and heart.