This entry represents the spermatogenesis-associated protein 7 (SPATA7, also known as HSD3). It was first identified in human spermatocytes. Later on, it was also found expressed in multiple layers of the mature mouse retina []. Mutations in SPATA7 cause Leber congenital amaurosis 3 (LCA3), which is a severe dystrophy of the retina, typically becoming evident in the first years of life [, ]. Mutations in SPATA7 also cause autosomal recessive retinitis pigmentosa (ARRP), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [].
