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TCAP

TCAP

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

What is the official name of the TCAP gene?

The official name of this gene is “titin-cap.”

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

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

Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

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

Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.

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

Genetics Home Reference provides information about these conditions associated with changes in the TCAP gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TCAP gene's known or predicted involvement in human disease.

Cardiomyopathy, familial hypertrophic (CMH): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Limb-girdle muscular dystrophy 2G (LGMD2G): An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.[2]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Cardiomyopathy, dilated 1N (CMD1N): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.[3]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 TCAP gene.
  • Dilated cardiomyopathy 1N[3]This link leads to a site outside Genetics Home Reference.
  • Limb-girdle muscular dystrophy, type 2G[2]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]
[2]
[3]

Where is the TCAP gene located?

Cytogenetic Location: 17q12

Molecular Location on chromosome 17: base pairs 39,665,345 to 39,666,553

The TCAP gene is located on the long (q) arm of chromosome 17 at position 12.

The TCAP gene is located on the long (q) arm of chromosome 17 at position 12.

More precisely, the TCAP gene is located from base pair 39,665,345 to base pair 39,666,553 on chromosome 17.

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

Where can I find additional information about TCAP?

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

  • CMD1N
  • LGMD2G
  • T-cap
  • TELE
  • telethonin

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 TCAP?

 

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: September 22, 2014