TNNI1
Description
The TNNI1 (troponin I1, slow skeletal type) is a protein-coding gene located on chromosome 1.
The TNNI1 gene encodes Troponin I, slow skeletal muscle, a protein that is a specific subtype of troponin I. It's part of the troponin complex, which regulates muscle contraction. The gene is located on chromosome 1 and spans 12.5 kilobases. It contains 9 exons and 8 introns, with the coding sequences found in exons 2 to 8. This gene produces a 21.7 kDa protein with 187 amino acids. TNNI1 is highly conserved in mammals, with only minor variations in amino acid sequences between humans, mice, bovine, and rhesus monkeys. However, the divergence between species is larger in lower vertebrates. TNNI1 is expressed in a broader range of avian and mammalian striated muscles compared to the fast twitch skeletal muscle and cardiac TnI isoform genes. It's the dominant TnI isoform expressed in both slow skeletal muscle and cardiac muscle during the early embryonic stage.
TNNI1 is also known as SSTNI, TNN1.
Associated Diseases
- esophageal cancer
- endometrial cancer
- urinary bladder cancer
- pacman dysplasia
- tibia, hypoplasia or aplasia of, with polydactyly
- tibial hemimelia
- Blount disease
- syndactyly type 4
- fibular aplasia-ectrodactyly syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- Gollop-Wolfgang complex
- acromesomelic dysplasia 2C, Hunter-Thompson type
- laurin-Sandrow syndrome
- Osebold-Remondini syndrome
- chromosome 17P13.3, telomeric, duplication syndrome
- acheiropody
