TSPAN12
[Tetraspanin-12] A previous designation is TM4SF12 [transmembrane 4 superfamily member 12]. The protein has been identified independently as NET-2 [New EST tetraspan 2] (Serru et al, 2000).
Role in retinal angiogenesis
The gene is being referred to also as EVR5 [exudative vitreoretinopathy-5], a retinal disorder characterized by abnormal angiogenesis in the peripheral retina and caused by point mutations in the TSPAN12 gene (see, for example: Poulter et al, 2010; Nikopoulos et al, 2010; for overview see: Gilmour, 2015). Seo SH et al (2016) have reported large deletions of TSPAN12 in some cases of familial exudative vitreoretinopathy.
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