RTEL1基因突变因子与药物介绍
该基因编码一种dna螺旋酶，其在端粒的稳定性、保护和延长中发挥作用，并与已知在dna复制过程中保护端粒的shelterin复合物中的蛋白质相互作用。该基因突变与先天性角化不良和霍耶尔-赫里达斯综合征有关。将该基因转录到相邻的下游基因中，该基因编码肿瘤坏死因子受体超家族成员6b，产生非编码转录物。选择性剪接导致编码不同亚型的多个转录变体[由RefSeq提供，2013年9月]
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
