菜单 基因医生

这个基因编码的蛋白质是在表皮外层角质形成细胞的终末分化过程中顺序结合到角质化细胞膜中的几种蛋白质之一。这种蛋白质与被称为角化细胞膜前体的外周蛋白相互作用。这种蛋白的细胞定位模式和不溶性表明,它可能在上皮分化中发挥作用,并有助于表皮完整性和屏障的形成。已观察到编码不同亚型的多个选择性剪接转录变体。[由RefSeq提供,2008年7月]
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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

基因名:PPHLN1
别名:CR,HSPC206,HSPC232
基因ID:51535
Chromosome:
(GRCh37)
12 Start: 42719947 End: 42842422 Strand: 
信号通路:  
PPHLN1 基因突变与药物