🧬 基因注释：TERT
官方名称：telomerase reverse transcriptase
功能摘要：Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008].
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA0 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPA3 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RSF1 置信度: 2.0
- SF4 置信度: 2.0
- Srsf3 置信度: 2.0
- B52 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPA1L2 置信度: 1.0
- HNRNPA1P4 置信度: 1.0
- MSI1 置信度: 1.0
- PCBP2 置信度: 1.0
该基因暂无关联疾病记录