Anti-FREM2 antibody

Supplementary info

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

Activity summary

FREM2 (Fras-related extracellular matrix 2) is a protein involved in cell-matrix interactions. It plays a mechanical role by contributing to the stability and structure of extracellular matrices. The FREM2 protein is predominantly expressed in the developing kidney and skin. It is also predominantly found in the basement membranes where it functions as part of the skin's mechanical framework. The molecular weight of the FREM2 protein is approximately 330 kDa reflecting its large and complex structure. Alternative names include TILRR and Truncated Interleukin-1 Receptor-Associated Kinase 1.

Biological function summary

FREM2 plays a significant role in embryonic development and tissue integrity. It forms part of a complex that includes extracellular matrix proteins such as FRAS1 and FREM1 which are critical for proper epidermal-dermal adhesion. The protein interacts with these partners to maintain the strength and flexibility of skin and renal tissues. FREM2 is essential during the development of multiple organ systems which highlights its importance in establishing connective tissues.

Pathways

FREM2 involves itself in pathways dedicated to skin morphogenesis and kidney development. In the skin morphogenesis pathway FREM2 interacts with proteins such as the peroxisome proliferator-activated receptor gamma (PPARG) which influences lipid metabolism and inflammatory responses important for skin barrier function. The protein interacts with other molecules in renal morphogenesis pathways maintaining the adhesion necessary for kidney structuring though it does not share direct pathway intersections with some more recognized proteins like nephrin.

Associated diseases and disorders

FREM2’s dysfunction relates closely to Fraser syndrome and other congenital malformations. Mutations or aberrations in FREM2 can disrupt normal extracellular matrix interactions leading to these conditions. Fraser syndrome for instance is characterized by cryptophthalmos syndactyly and renal defects. The disease associations of FREM2 often involve proteins like FRAS1 which similarly impacts extracellular matrix stability and can exacerbate developmental anomalies when mutated.