Laboratory of Genome Integrity, Institute of Molecular Genetics of the Czech Academy of Sciences, Videnska 1083, 14220 Prague, Czech Republic.
Genes (Basel). 2021 Jan 18;12(1):108. doi: 10.3390/genes12010108.
Among the ~22,000 human genes, very few remain that have unknown functions. One such example is suprabasin (). Originally described as a component of the cornified envelope, the function of stratified epithelia-expressed is unknown. Both the lack of knowledge about the gene role under physiological conditions and the emerging link of to various human diseases, including cancer, attract research interest. The association of expression with poor prognosis of patients suffering from oesophageal carcinoma, glioblastoma multiforme, and myelodysplastic syndromes suggests that may play a role in human tumourigenesis. Three isoforms code for the secreted proteins with putative function as signalling molecules, yet with poorly described effects. In this first review about , we summarised the current knowledge accumulated since its original description, and we discuss the potential mechanisms and roles of in both physiology and pathology.
在大约 22000 个人类基因中，仅有极少数基因的功能仍未知。suprabasin（）就是其中一个例子。最初被描述为角蛋白包膜的一个组成部分，但其在分层上皮细胞中的功能未知。缺乏对生理条件下基因作用的了解，以及 与各种人类疾病（包括癌症）的新兴联系，引起了研究兴趣。在患有食道癌、多形性胶质母细胞瘤和骨髓增生异常综合征的患者中， 表达与预后不良相关，这表明 可能在人类肿瘤发生中发挥作用。三种 异构体编码具有潜在信号分子功能的分泌蛋白，但作用描述不佳。在关于 的第一篇综述中，我们总结了自最初描述以来积累的现有知识，并讨论了 在生理和病理中的潜在机制和作用。
