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MYPN

MYPN

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

What is the official name of the MYPN gene?

The official name of this gene is “myopalladin.”

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

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

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

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

Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.

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

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

Cardiomyopathy, dilated 1KK (CMD1KK): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature 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.

Cardiomyopathy, familial hypertrophic 22 (CMH22): 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.

Cardiomyopathy, familial restrictive 4 (RCM4): A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.[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 MYPN gene.
  • Dilated cardiomyopathy 1KK[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 MYPN gene located?

Cytogenetic Location: 10q21.3

Molecular Location on chromosome 10: base pairs 68,106,116 to 68,212,016

The MYPN gene is located on the long (q) arm of chromosome 10 at position 21.3.

The MYPN gene is located on the long (q) arm of chromosome 10 at position 21.3.

More precisely, the MYPN gene is located from base pair 68,106,116 to base pair 68,212,016 on chromosome 10.

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

Where can I find additional information about MYPN?

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

  • CMD1DD
  • CMH22
  • MYOP
  • RCM4

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 MYPN?

actin ; alternative splicing ; arrhythmia ; benign ; cardiac ; cardiomyopathy ; dilated ; dilation ; dyspnea ; familial ; gene ; gene product ; heart failure ; hereditary ; hypertrophic ; hypertrophy ; intrafamilial variability ; palpitations ; protein ; sarcomere ; septum ; sign ; skeletal muscle ; splicing ; syncope ; 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: September 29, 2014