Recombinant Human FAM20A protein

FAM20A (Family with sequence similarity 20 member A) is a secreted protein belonging to the FAM20 family, which includes FAM20B and FAM20C. It has gained attention due to its critical roles in biomineralization and cellular signaling. FAM20A is primarily recognized as a regulatory partner of FAM20C, a kinase responsible for phosphorylating secretory pathway proteins. While FAM20C phosphorylates substrates like SIBLING proteins (e.g., osteopontin), FAM20A enhances FAM20C’s kinase activity, suggesting a chaperone-like function in modulating extracellular phosphorylation events.

Mutations in the FAM20A gene are linked to autosomal recessive disorders such as amelogenesis imperfecta (AI) and Raine syndrome, characterized by defective enamel formation, abnormal bone mineralization, and craniofacial malformations. These conditions underscore its importance in dental and skeletal development. Studies indicate FAM20A influences calcium-phosphate homeostasis and interacts with pathways involving Wnt and FGF signaling, though its precise molecular mechanisms remain under investigation.

Recombinant FAM20A protein is produced using expression systems (e.g., mammalian, insect cells) to ensure proper post-translational modifications. This engineered protein serves as a vital tool for studying FAM20A-FAM20C interactions, substrate specificity, and its role in mineralization processes. Researchers utilize it in cell-based assays, animal models, and structural studies to dissect its functional domains and pathological variants. Additionally, recombinant FAM20A holds potential for therapeutic exploration, particularly in regenerative dentistry or disorders linked to biomineralization defects. Its application extends to drug screening platforms aiming to identify modulators of FAM20 family activity. Ongoing research continues to unravel its broader biological significance beyond mineralized tissues, including possible roles in cancer and kidney function.