🧬 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].
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- RBM39 综合评分: 0.250 · 证据 2 条
- U2af2 综合评分: 0.224 · 证据 1 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- YBX1 综合评分: 0.162 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- GRSF1 综合评分: 0.150 · 证据 2 条
- PABPC4 综合评分: 0.150 · 证据 2 条
- Srsf4 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
该基因暂无关联疾病记录