Anti-FRAS1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

FRAS1 (Fraser syndrome 1) is a protein with a mass of approximately 419 kDa. It is expressed in the basement membrane zone of epithelial tissues particularly in the skin lungs kidneys and developing eyes. FRAS1 belongs to the extracellular matrix and plays a critical role in the structural organization of these tissues. This protein is also known as Fraser syndrome protein 1 and mutations in the FRAS1 gene can cause developmental defects.

Biological function summary

FRAS1 interacts with other extracellular matrix proteins to maintain the integrity of basement membranes. It forms a complex with FREM2 (Fras1 related extracellular matrix protein 2) and FREM1 (Fras1 related extracellular matrix protein 1). This complex is important for the adhesion between epithelial and mesenchymal cells during embryonic development ensuring proper organ formation and function. The correct assembly of this protein complex is essential for tissue integrity.

Pathways

FRAS1 participates in the assembly and organization of the extracellular matrix. It has an important role in epithelial-mesenchymal signaling particularly during embryonic development. This protein interacts with BMP4 (Bone Morphogenetic Protein 4) within these pathways influencing morphogenetic processes. FRAS1's participation in these pathways ensures proper organ structure and function by maintaining stable cellular environments.

Associated diseases and disorders

FRAS1 is most notably associated with Fraser syndrome a genetic disorder characterized by cryptophthalmos syndactyly and renal agenesis. Mutations in the FRAS1 often resulting in a loss of function cause this syndrome. Another relevant condition is renal malformation which corresponds with disrupted FRAS1 function. Through these conditions FRAS1 also links to other proteins such as nephronectin that is involved in kidney development and maintenance.