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TNNT1

TNNT1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the TNNT1 gene?

The official name of this gene is “troponin T type 1 (skeletal, slow).”

TNNT1 is the gene's official symbol. The TNNT1 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 TNNT1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

How are changes in the TNNT1 gene related to health conditions?

Genetics Home Reference provides information about nemaline myopathy, which is associated with changes in the TNNT1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TNNT1 gene's known or predicted involvement in human disease.

Nemaline myopathy 5 (NEM5): A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TNNT1 gene.
  • Nemaline myopathy 5[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the TNNT1 gene located?

Cytogenetic Location: 19q13.4

Molecular Location on chromosome 19: base pairs 55,132,792 to 55,149,331

The TNNT1 gene is located on the long (q) arm of chromosome 19 at position 13.4.

The TNNT1 gene is located on the long (q) arm of chromosome 19 at position 13.4.

More precisely, the TNNT1 gene is located from base pair 55,132,792 to base pair 55,149,331 on chromosome 19.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TNNT1?

You and your healthcare professional may find the following resources about TNNT1 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 TNNT1 gene or gene products?

  • ANM
  • NEM5
  • STNT
  • TNT
  • TNTS

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 TNNT1?

calcium ; contraction ; gene ; hypotonia ; intracellular ; isoforms ; protein ; proximal ; respiratory ; sarcomere ; sensitivity ; skeletal muscle ; subunit ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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.

 
Published: July 21, 2014