Age Related Maculopathy Susceptibility 2 (ARMS2)

Kanda et al. (2007) reported that ARMS2 encodes a deduced 107-amino acid protein with 9 predicted phosphorylation sites and a molecular mass of 12 kD. By RT-PCR analysis, they detected ARMS2 transcripts in retina and in a variety of other tissues and cell lines. Transfection experiments in mammalian cells localized the protein to the mitochondrial outer membrane.  Fritsche et al. (2008) confirmed the findings of Kanda et al. (2007) and further defined the retinal localization of ARMS2 to the ellipsoid region of the photoreceptors.The ARMS2 gene resides in chromosome 10q26.13, in a region associated with susceptibility to age-related macular degeneration.