Age-related maculopathy susceptibility protein 2 (ARMS2)

Age-related maculopathy susceptibility protein 2 (ARMS2) is a small, secreted primate-specific protein encoded by the ARMS2 gene, which localizes predominantly to the extracellular matrix in choroidal tissue of the eye and is critical for maintaining normal matrix structure[5][6]. ARMS2 also appears to regulate the clearance of cellular debris via complement activation, specifically by recruiting properdin and augmenting C3b opsonization, thus promoting phagocytosis in retinal pigment epithelium and monocytes[3][9]. Loss or mutation of ARMS2, specifically at the rs10490924 and del443ins54 loci, is a major genetic risk factor in age-related macular degeneration, likely contributing to pathological accumulation of drusen and extracellular matrix dysfunction[1][3][4][7]. Although ARMS2 is highly expressed in the placenta and retina, its exact function is still under investigation, with disputed findings regarding mitochondrial localization and a probable extracellular role supported by recent studies[2][4][5][6][9]. No drugs currently target ARMS2 directly, but its genetic variants are used as biomarkers to assess AMD risk and disease progression[1][4][7].

Other names

ARMD8LOC387715ARMS2_HUMANAge-related maculopathy susceptibility 2Age-related maculopathy susceptibility protein 2ARMS2

no approved drugs targeting ARMS2, but mechanistic studies show it might regulate complement activation via properdin recruitment, influencing phagocytosis