PPHLN1编码蛋白是HUSH复合物的组成部分,HUSH复合物是一种介导表观遗传抑制的多蛋白复合物。PPHLN1编码蛋白是在表皮外层角质细胞末端分化过程中依次进入角化细胞包膜的几种蛋白质中的一种。这种蛋白质与周质素(角质化细胞包膜的前体)相互作用。该蛋白的细胞定位模式和不溶性表明它可能在上皮分化中起作用,并有助于表皮完整性和屏障形成。FGFR2–PPHLN1融合可能起到致癌的作用。
Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis.This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation.Fusion of FGFR2–PPHLN1 may play a carcinogenic role(15474462, 26022416, 17963697).
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