🧬 基因注释：TNNT1
官方名称：troponin T1, slow skeletal type
功能摘要：This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPK 置信度: 2.0
- PABPC4 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM15 置信度: 2.0
- RBM39 置信度: 2.0
- AQR 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF2 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf4 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- Tra2a 置信度: 1.0
该基因暂无关联疾病记录