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TNNT3

TNNT3

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

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?

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

The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]

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 TNNT3 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TNNT3 gene's known or predicted involvement in human disease.

Arthrogryposis, distal, 2B (DA2B): A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. 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 TNNT3 gene.
  • Distal arthrogryposis type 2B
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the TNNT3 gene and its association with health conditions.
OMIM
Number
Title

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.

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

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?

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?

actin ; alternative splicing ; arthrogryposis ; Ca ; calcium ; cardiac ; congenital ; contraction ; distal ; gene ; isoforms ; joint ; myosin ; neonatal ; neurological ; protein ; sensitivity ; splicing ; subunit ; tissue ; 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: April 20, 2015