Involved in retinal vascularization by regulating norrin (NDP) signal transduction (Junge et al., 2009). Promotes ADAM10 maturation, facilitating ADAM10-dependent proteolysis of APP (Xu et al., 2009). Heterozygous mutation in TSPAN12 gene is associated with familial exudative vitreoretinopathy (Carroll and Kim, 2019). The gene discussed is TSPAN12; the disease is Familial exudative vitreoretinopathy.