PROM1基因突变因子与药物介绍
这个基因编码五跨膜糖蛋白。这种蛋白定位于膜突起，通常在成人干细胞上表达，在那里它被认为通过抑制分化来维持干细胞特性。该基因的突变已被证明会导致视网膜色素变性和Stargardt病。这种基因的表达也与几种癌症有关。该基因由至少5种以组织依赖方式表达的替代启动子表达。已发现编码该基因不同亚型的多种转录变体。
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene.
