domingo, 12 de julio de 2015

TNNT3 - troponin T type 3 (skeletal, fast) - Genetics Home Reference

TNNT3 - troponin T type 3 (skeletal, fast) - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the TNNT3 gene?

The official name of this gene is “troponin T type 3 (skeletal, fast).”
TNNT3 is the gene's official symbol. The TNNT3 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 TNNT3 gene?

The TNNT3 gene provides instructions for making one form of a protein called troponin T. The troponin T protein produced from the TNNT3 gene is found in skeletal muscles, which are the muscles used for movement. Troponin T 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 TNNT3 gene related to health conditions?

Sheldon-Hall syndrome - caused by mutations in the TNNT3 gene
At least three TNNT3 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. The TNNT3 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 TNNT3 gene located?

Cytogenetic Location: 11p15.5
Molecular Location on chromosome 11: base pairs 1,919,561 to 1,938,705
The TNNT3 gene is located on the short (p) arm of chromosome 11 at position 15.5.
The TNNT3 gene is located on the short (p) arm of chromosome 11 at position 15.5.
More precisely, the TNNT3 gene is located from base pair 1,919,561 to base pair 1,938,705 on chromosome 11.

Where can I find additional information about TNNT3?

You and your healthcare professional may find the following resources about TNNT3 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 TNNT3 gene or gene products?

  • AMCD2B
  • beta TnTF
  • beta-TnTF
  • DA2B
  • DKFZp779M2348
  • fast skeletal muscle troponin T
  • FSSV
  • fTnT
  • TNTF
  • troponin-T3, skeletal, fast
  • troponin T, fast skeletal muscle
  • troponin T, fast skeletal muscle isoform 1
  • troponin T, fast skeletal muscle isoform 2
  • troponin T, fast skeletal muscle isoform 3
  • troponin T, fast skeletal muscle isoform 4

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 TNNT3?

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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