Reduced expression or loss of function of this isoform has been described in retinoblastoma and autosomal-recessive omodysplasia [49, 50]; however, breast carcinoma invasion has been reported to be promoted through induction of glypican-6 by the transcriptional factor NFAT (nuclear factor of activated T-cells) using non-canonical Wnt5a signaling [51]. This evidence concerns the gene GPC6 and autosomal recessive omodysplasia.