人 TNNT1 (NM_001126132) cDNA克隆

Accession: NM_001126132
基因名称: TNNT1
基因别名: ANM; TNT; NEM5; STNT; TNTS
基因描述: Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 789 (查看编码区序列)
翻译后氨基酸长度: 262 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
产品编号 产品名称 载体 规格 价格
G108788 人 TNNT1 (NM_001126132) cDNA克隆 pDONR223 2ug质粒 点击询价

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]