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MYOZ2

MYOZ2

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

What is the official name of the MYOZ2 gene?

The official name of this gene is “myozenin 2.”

MYOZ2 is the gene's official symbol. The MYOZ2 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 MYOZ2 gene?

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

The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]

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

Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

How are changes in the MYOZ2 gene related to health conditions?

Genetics Home Reference provides information about familial hypertrophic cardiomyopathy, which is associated with changes in the MYOZ2 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the MYOZ2 gene's known or predicted involvement in human disease.

Cardiomyopathy, familial hypertrophic 16 (CMH16): 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.

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 MYOZ2 gene.
  • Familial hypertrophic cardiomyopathy 16[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 MYOZ2 gene located?

Cytogenetic Location: 4q26-q27

Molecular Location on chromosome 4: base pairs 119,135,783 to 119,187,788

The MYOZ2 gene is located on the long (q) arm of chromosome 4 between positions 26 and 27.

The MYOZ2 gene is located on the long (q) arm of chromosome 4 between positions 26 and 27.

More precisely, the MYOZ2 gene is located from base pair 119,135,783 to base pair 119,187,788 on chromosome 4.

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

Where can I find additional information about MYOZ2?

You and your healthcare professional may find the following resources about MYOZ2 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 MYOZ2 gene or gene products?

  • C4orf5
  • CMH16
  • CS-1

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 MYOZ2?

benign ; calcium ; cardiac ; cardiomyopathy ; cell ; dyspnea ; familial ; gene ; hereditary ; hypertrophic ; hypertrophy ; intracellular ; intrafamilial variability ; muscle cells ; palpitations ; phosphatase ; protein ; sarcomere ; septum ; signal transduction ; skeletal muscle ; syncope ; transduction

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: October 20, 2014