Family with sequence similarity 210 member A (FAM210A)

Family with sequence similarity 210 member A (FAM210A) is a nuclear-encoded mitochondrial protein localized primarily to the mitochondrial inner membrane, where it plays a crucial regulatory role in mitochondrial homeostasis, including the regulation of mitochondrial dynamics, cristae remodeling, proteostasis, and energy metabolism[1][2][3]. FAM210A contains an N-terminal mitochondrial targeting signal, a DUF1279 domain that mediates protein-protein interactions, and a C-terminal coiled-coil domain. It is highly expressed in skeletal muscle and heart tissues, and genetic studies implicate it in the maintenance of skeletal muscle mass, bone mineral density, and broader metabolic homeostasis. FAM210A forms complexes with other mitochondrial translation machinery proteins, such as EF-Tu, influencing mitochondrial-encoded protein synthesis. Loss of FAM210A impairs mitochondrial function, leading to fragmented mitochondria, disrupted translation, metabolic defects, and can manifest in physiological defects such as muscle weakness, bone fragility, and systemic metabolic syndromes[1][2][3]. There are currently no approved drugs or referenced small molecules known to directly target FAM210A, and it is not classified as a receptor, enzyme, transporter, or other traditional therapeutic target class.

Other names

C18orf19MGC24180HsT2329protein FAM210Auncharacterized protein C18orf19