FRAS1-related extracellular matrix protein 1 (FREM1)

FRAS1-related extracellular matrix protein 1 (FREM1) is an extracellular matrix protein crucial for the formation and organization of basement membranes, which are essential for separating and supporting cells in many tissues[1][4][7]. FREM1 partners with other basement membrane components, such as FRAS1 and FREM2, to form a stabilized protein complex that anchors epithelial cell layers to underlying tissues, especially during embryonic development[3][5]. This protein plays a critical role in embryonic morphogenesis, particularly in the development of skin, craniofacial structures, kidneys, and urogenital tissues[1][2][6]. Mutations in FREM1 are associated with syndromes characterized by craniofacial, renal, and urogenital anomalies, including Manitoba oculotrichoanal syndrome and BNAR (bifid nose, renal agenesis, and anorectal malformation syndrome)[1][6][7]. Alternative splicing of the gene produces isoforms, one of which (TILRR) may be involved in modulating inflammatory signals, although the principal FREM1 protein is not known to act as a drug target or receptor in therapeutic contexts[7]. Thus, FREM1 is best described as a non-receptor structural matrix protein involved in basement membrane biology and congenital disorders of tissue development, rather than as a classic pharmacologic target.

Other names

BNARC9orf143C9orf145C9orf154FLJ25461QBRICKTILRRMOTATRIGNO2extracellular matrix protein QBRICKFRAS1 related extracellular matrix 1FRAS1-related extracellular matrix protein 1