domingo, 12 de julio de 2015

TNNI2 - troponin I type 2 (skeletal, fast) - Genetics Home Reference

TNNI2 - troponin I type 2 (skeletal, fast) - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the TNNI2 gene?

The official name of this gene is “troponin I type 2 (skeletal, fast).”
TNNI2 is the gene's official symbol. The TNNI2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the TNNI2 gene?

The TNNI2 gene provides instructions for making one form of a protein called troponin I. The troponin I protein produced from the TNNI2 gene is found in skeletal muscles, which are the muscles used for movement. Troponin I is one of three proteins that make up the troponin complex in muscle cells. The troponin complex, along with calcium, helps regulate muscle tensing (contraction).
The troponin complex is part of a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres contain thick and thin filaments. The overlapping thick and thin filaments attach (bind) to each other and release, which allows the filaments to move relative to one another so that muscles can contract.
When calcium levels are low, the troponin complex blocks the binding between the thick and thin filaments that is needed for muscle contraction. An increase in calcium levels causes structural changes in the troponin complex, which exposes the binding sites and allows the thick and thin filaments to interact, leading to muscle contraction.

How are changes in the TNNI2 gene related to health conditions?

Sheldon-Hall syndrome - caused by mutations in the TNNI2 gene
At least eight TNNI2 gene mutations have been identified in people with Sheldon-Hall syndrome. This disorder affects muscle and skeletal development before birth and is characterized by joint deformities (contractures) that restrict movement in the hands and feet. Researchers suggest that the TNNI2 gene mutations that cause Sheldon-Hall syndrome may prevent the troponin complex from blocking thick and thin filament binding to control muscle contractions, resulting in the contractures and other muscle and skeletal abnormalities associated with Sheldon-Hall syndrome.

Where is the TNNI2 gene located?

Cytogenetic Location: 11p15.5
Molecular Location on chromosome 11: base pairs 1,839,002 to 1,841,679
The TNNI2 gene is located on the short (p) arm of chromosome 11 at position 15.5.
The TNNI2 gene is located on the short (p) arm of chromosome 11 at position 15.5.
More precisely, the TNNI2 gene is located from base pair 1,839,002 to base pair 1,841,679 on chromosome 11.

Where can I find additional information about TNNI2?

You and your healthcare professional may find the following resources about TNNI2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TNNI2 gene or gene products?

  • AMCD2B
  • DA2B
  • FSSV
  • fsTnI
  • troponin I, fast skeletal muscle
  • troponin I, fast skeletal muscle isoform 1
  • troponin I, fast skeletal muscle isoform 2
  • troponin I fast twitch 2
  • troponin I, fast-twitch isoform
  • troponin I, fast-twitch skeletal muscle isoform
  • troponin I, skeletal, fast

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TNNI2?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

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