Microfibrillar-associated protein 2 (MFAP2), also known as microfibril-associated glycoprotein 1 (MAGP1), is a significant protein encoded by the MFAP2 gene in humans. This protein is a major component of elastin-associated microfibrils and plays a crucial role in the structural integrity and function of the extracellular matrix (ECM).
The MFAP2 gene is located on chromosome 1 at the cytogenetic band 1p36.13 . It encodes two transcripts with alternatively spliced 5’ untranslated exons, but both transcripts contain the same eight coding exons, resulting in the same protein . The protein itself is composed of 183 amino acids and has a molecular weight of approximately 31 kDa .
MFAP2 is primarily involved in the formation and maintenance of microfibrils, which are essential components of the ECM. These microfibrils provide structural support to tissues and are involved in various biological processes, including:
MFAP2 has been identified as a candidate for involvement in the etiology of inherited connective tissue diseases . Mutations or dysregulation of the MFAP2 gene can lead to abnormalities in the ECM, potentially resulting in various connective tissue disorders.
Recent studies have also highlighted the role of MFAP2 in cancer. It has been associated with tumor occurrence and development, and may be involved in remodeling the ECM, regulating cell proliferation, apoptosis, invasion, metastasis, and angiogenesis . This makes MFAP2 a potential prognostic marker and therapeutic target in oncology.
Human recombinant MFAP2 is produced using recombinant DNA technology, which involves inserting the human MFAP2 gene into a suitable expression system, such as bacteria or mammalian cells. This allows for the production of large quantities of the protein for research and therapeutic purposes.
Recombinant MFAP2 is used in various studies to understand its structure, function, and role in diseases. It also serves as a valuable tool in the development of potential therapeutic interventions targeting ECM-related disorders and cancers.