Fraser extracellular matrix complex subunit 1 (FRAS1)

Fraser extracellular matrix complex subunit 1 (FRAS1) is a large extracellular matrix protein critical for embryonic development, particularly in maintaining epidermal-basement membrane adhesion and supporting proper organogenesis[1][2][3][4]. It is a core member of the FRAS/FREM complex, which anchors the top layer of the skin to deeper tissues and facilitates the interface between epithelial and mesenchymal cells during organogenesis in organs such as skin, kidney, and lungs[2][3][4]. Mutations in FRAS1 lead to Fraser syndrome, characterized by eye defects (cryptophthalmos), syndactyly, and renal agenesis[2][4][5]. FRAS1 also plays roles in the structural composition of basement membranes and is relevant to certain cancers, with changes in expression and epigenetic modifications serving as prognostic markers in kidney cancer[4][5]. It interacts closely with other FRAS/FREM family proteins to maintain basement membrane integrity and regulate developmental processes[1][3][6]. **Key Notes:** - FRAS1 is not conventionally considered a pharmacological therapeutic target such as a receptor, enzyme, or transporter (no known drugs directly target FRAS1 as of current knowledge). - Disease roles are largely congenital and developmental, also associated with cancer through expression and methylation changes. - No approved drugs or direct modulators are currently known; no standard mechanism of action or safety concerns in a pharmacological sense apply.

Other names

FRAS1KIAA1500FLJ22031FLJ14927Fraser syndrome 1 proteinFRASRS1extracellular matrix organizing protein FRAS1Fraser syndrome 1extracellular matrix protein FRAS1