CSRP3
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<h1 id="tab1">CSRP3</h1>
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<div>The information on this page was <a href="http://ghr.nlm.nih.gov/about#databases">automatically extracted</a> from online scientific databases.</div>
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<p>On this page:</p>
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<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#name">Name</a> </li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#normalfunction">Normal function</a> </li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#conditions">Genetic changes</a> </li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#location">Gene location</a> </li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#links">Additional information</a> </li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#synonyms">Other names</a></li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#genes">About genes</a> </li>
<li><a href="http://ghr.nlm.nih.gov/gene/CSRP3#glossary">Glossary definitions</a></li>
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<a id="name" name="name"> </a>
<h2>What is the official name of the CSRP3 gene?</h2>
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<p>The official name of this gene is “cysteine and glycine-rich protein 3 (cardiac LIM protein).”
CSRP3 is the gene's official symbol. The CSRP3 gene is also known by other names, listed below.
Read more about gene names and symbols on the <a href="http://ghr.nlm.nih.gov/about#gene_naming">About</a> page.</p>
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<a id="normalfunction" name="normalfunction"> </a>
<h2>What is the normal function of the CSRP3 gene?</h2>
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<dt>From <a href="http://www.ncbi.nlm.nih.gov/gene/8048" onclick="openNewWindow('http://www.ncbi.nlm.nih.gov/gene/8048', '',''); return false;">NCBI <nobr>Gene<img src="/1bbe36e0-e5d9-5988-9ff4-2d3b242af9c4.gif"/></nobr></a>:</dt>
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<p>This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]</p>
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<dt>From <a href="http://www.uniprot.org/uniprot/P50461" onclick="openNewWindow('http://www.uniprot.org/uniprot/P50461', '',''); return false;"><nobr>UniProt<img src="/ff98fa44-2b93-56f7-8be6-0f16a6ba7bd8.gif"/></nobr></a>:</dt>
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<p>Positive regulator of myogenesis. Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation.</p>
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<a id="conditions" name="conditions"> </a>
<h2>How are changes in the CSRP3 gene related to health conditions?</h2>
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<dt>Genetics Home Reference provides information about these conditions associated with changes in theCSRP3 gene:</dt>
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<li><a href="http://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy">familial dilated cardiomyopathy</a></li>
<li><a href="http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy">familial hypertrophic cardiomyopathy</a></li>
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<dt><a href="http://www.uniprot.org/uniprot/P50461" onclick="openNewWindow('http://www.uniprot.org/uniprot/P50461', '',''); return false;"><nobr>UniProt<img src="/922c2a38-41a5-52d4-b98e-c28dec5304d0.gif"/></nobr></a> provides the following information about the CSRP3 gene's known or predicted involvement in human disease.</dt>
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<p>Cardiomyopathy, dilated 1M (CMD1M): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, familial hypertrophic 12 (CMH12): 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. The disease is caused by mutations affecting the gene represented in this entry.</p>
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<dt><a href="http://www.ncbi.nlm.nih.gov/gene/8048" onclick="openNewWindow('http://www.ncbi.nlm.nih.gov/gene/8048', '',''); return false;">NCBI <nobr>Gene<img src="/b10ddf57-a3cf-51e6-95db-4bed26ab5dc4.gif"/></nobr></a> lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CSRP3 gene.</dt>
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<li>Dilated cardiomyopathy 1M</li>
<li>Familial hypertrophic cardiomyopathy 12</li>
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<dt><a href="http://omim.org/" onclick="openNewWindow('http://omim.org/', '',''); return false;"><nobr>OMIM.org<img src="/42df23dc-0995-5824-8b90-035ab4ebe78c.gif"/></nobr></a>, a catalog designed for genetics professionals and researchers, provides the following information about the CSRP3 gene and its association with health conditions.</dt>
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<table summary="OMIM articles" cellpadding="0" cellspacing="0" border="1"><thead>
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<th scope="col">OMIM
Number</th>
<th scope="col">Title</th>
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<td><a href="http://omim.org/entry/607482" onclick="openNewWindow('http://omim.org/entry/607482', '',''); return false;"><nobr>607482<img src="/3be9ff25-5c90-5ed7-a93e-d5ffeffc2182.gif"/></nobr></a></td>
<td>CARDIOMYOPATHY, DILATED, 1M</td>
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<td><a href="http://omim.org/entry/612124" onclick="openNewWindow('http://omim.org/entry/612124', '',''); return false;"><nobr>612124<img src="/a5b8d205-c84b-5115-b414-c350cf82b003.gif"/></nobr></a></td>
<td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12</td>
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<td><a href="http://omim.org/entry/600824" onclick="openNewWindow('http://omim.org/entry/600824', '',''); return false;"><nobr>600824<img src="/37e54c58-e5ce-56e9-88fb-85b614a843e2.gif"/></nobr></a></td>
<td>CYSTEINE- AND GLYCINE-RICH PROTEIN 3</td>
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<a id="location" name="location"> </a>
<h2>Where is the CSRP3 gene located?</h2>
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<p>Cytogenetic Location: 11p15.1
Molecular Location on chromosome 11: base pairs 19,182,029 to 19,210,570</p>
<div><img src="/a7ff8c7c-5860-54aa-b08e-c7d5533541dc.gif"/><a href="http://ghr.nlm.nih.gov/dynamicImages/chromomap/CSRP3.jpeg" onclick="openNewPictureWindow('/dynamicImages/chromomap/CSRP3.jpeg', '',365, 188); return false;"><img src="/266fd0c6-b3d8-581d-938c-d0ac342052b9.jpeg"/></a></div>
<p>The CSRP3 gene is located on the short (p) arm of <a href="http://ghr.nlm.nih.gov/chromosome/11">chromosome 11</a> at position 15.1.
More precisely, the CSRP3 gene is located from base pair 19,182,029 to base pair 19,210,570 on chromosome 11.
See <a href="http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation">How do geneticists indicate the location of a gene?</a> in the Handbook.</p>
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<a id="links" name="links"> </a>
<h2>Where can I find additional information about CSRP3?</h2>
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<p>You and your healthcare professional may find the following resources about CSRP3 helpful.</p>
<ul>
<li>Genetic Testing Registry - Repository of genetic test information
<ul>
<li><a href="http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8048%5Bgeneid%5D" onclick="openNewWindow('http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8048%5Bgeneid%5D', '',''); return false;">GTR: Genetic tests for <nobr>CSRP3<img src="/2b6d3953-4e5c-5f3d-a95d-6387f6bd90a7.gif"/></nobr></a></li>
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<p>You may also be interested in these resources, which are designed for genetics professionals and researchers.</p>
<ul>
<li>OMIM - Genetic disorder catalog
<ul>
<li><a href="http://omim.org/entry/600824" onclick="openNewWindow('http://omim.org/entry/600824', '',''); return false;">CYSTEINE- AND GLYCINE-RICH PROTEIN <nobr>3<img src="/f4f065f3-2e53-5b02-9902-8de29b8f40ce.gif"/></nobr></a></li>
<li><a href="http://omim.org/entry/607482" onclick="openNewWindow('http://omim.org/entry/607482', '',''); return false;">CARDIOMYOPATHY, DILATED, <nobr>1M<img src="/b45e910c-cb29-5d87-a810-f4e45918128d.gif"/></nobr></a></li>
<li><a href="http://omim.org/entry/612124" onclick="openNewWindow('http://omim.org/entry/612124', '',''); return false;">CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, <nobr>12<img src="/e2debd2e-a80e-52d8-99ab-5fdc4d00431e.gif"/></nobr></a></li>
</ul>
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<li>Research Resources - Tools for researchers
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<li><a href="http://atlasgeneticsoncology.org/Genes/GC_CSRP3.html" onclick="openNewWindow('http://atlasgeneticsoncology.org/Genes/GC_CSRP3.html', '',''); return false;">Atlas of Genetics and Cytogenetics in Oncology and <nobr>Haematology<img src="/90fac0e5-c7f6-5bbf-8dea-33465cf146e1.gif"/></nobr></a></li>
<li><a href="http://www.ncbi.nlm.nih.gov/gene/8048" onclick="openNewWindow('http://www.ncbi.nlm.nih.gov/gene/8048', '',''); return false;">NCBI <nobr>Gene<img src="/bfac0935-3794-586a-a511-28dee0763440.gif"/></nobr></a></li>
<li><a href="http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=2472" onclick="openNewWindow('http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=2472', '',''); return false;">HGNC Gene Symbol <nobr>Report<img src="/a302426d-a653-5783-bc6b-4b0bf3bd6476.gif"/></nobr></a></li>
<li><a href="http://www.uniprot.org/uniprot/P50461" onclick="openNewWindow('http://www.uniprot.org/uniprot/P50461', '',''); return false;"><nobr>UniProt<img src="/83320685-4742-5b89-9ba4-0d064b48433a.gif"/></nobr></a></li>
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<a id="synonyms" name="synonyms"> </a>
<h2>What other names do people use for the CSRP3 gene or gene products?</h2>
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<li>CLP</li>
<li>CMD1M</li>
<li>CMH12</li>
<li>CRP3</li>
<li>LMO4</li>
<li>MLP</li>
</ul>
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<p>See <a href="http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming">How are genetic conditions and genes named?</a> in the Handbook.</p>
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<a id="genes" name="genes"> </a>
<h2>Where can I find general information about genes?</h2>
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<p>The Handbook provides basic information about genetics in clear language.</p>
<ul>
<li><a href="http://ghr.nlm.nih.gov/handbook/basics/dna">What is DNA?</a></li>
<li><a href="http://ghr.nlm.nih.gov/handbook/basics/gene">What is a gene?</a></li>
<li><a href="http://ghr.nlm.nih.gov/handbook/howgeneswork/makingprotein">How do genes direct the production of proteins?</a></li>
<li><a href="http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mutationscausedisease">How can gene mutations affect health and development?</a></li>
</ul>
<p>These links provide additional genetics resources that may be useful.</p>
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<li><a href="http://ghr.nlm.nih.gov/Resources/education">Genetics Education</a></li>
<li><a href="http://ghr.nlm.nih.gov/Resources/genome">Human Genome Project</a></li>
<li><a href="http://ghr.nlm.nih.gov/Resources/researchers">Resources for Genetics Researchers</a></li>
</ul>
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<a id="glossary" name="glossary"> </a>
<h2>What glossary definitions help with understanding CSRP3?</h2>
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<p><a href="http://ghr.nlm.nih.gov/glossary=arrhythmia">arrhythmia</a> ; <a href="http://ghr.nlm.nih.gov/glossary=benign">benign</a> ; <a href="http://ghr.nlm.nih.gov/glossary=cardiac">cardiac</a> ; <a href="http://ghr.nlm.nih.gov/glossary=cardiomyopathy">cardiomyopathy</a> ; <a href="http://ghr.nlm.nih.gov/glossary=cell">cell</a> ; <a href="http://ghr.nlm.nih.gov/glossary=differentiation">differentiation</a> ; <a href="http://ghr.nlm.nih.gov/glossary=dilated">dilated</a> ; <a href="http://ghr.nlm.nih.gov/glossary=dilatation">dilation</a> ; <a href="http://ghr.nlm.nih.gov/glossary=domain">domain</a> ; <a href="http://ghr.nlm.nih.gov/glossary=dyspnea">dyspnea</a> ;<a href="http://ghr.nlm.nih.gov/glossary=familial">familial</a> ; <a href="http://ghr.nlm.nih.gov/glossary=gene">gene</a> ; <a href="http://ghr.nlm.nih.gov/glossary=generegulation">gene regulation</a> ; <a href="http://ghr.nlm.nih.gov/glossary=heartfailure">heart failure</a> ; <a href="http://ghr.nlm.nih.gov/glossary=hereditary">hereditary</a> ; <a href="http://ghr.nlm.nih.gov/glossary=hereditary">heritable</a> ; <a href="http://ghr.nlm.nih.gov/glossary=hypertrophy">hypertrophic</a> ; <a href="http://ghr.nlm.nih.gov/glossary=hypertrophy">hypertrophy</a> ;<a href="http://ghr.nlm.nih.gov/glossary=intrafamilialvariability">intrafamilial variability</a> ; <a href="http://ghr.nlm.nih.gov/glossary=motif">motif</a> ; <a href="http://ghr.nlm.nih.gov/glossary=palpitations">palpitations</a> ; <a href="http://ghr.nlm.nih.gov/glossary=protein">protein</a> ; <a href="http://ghr.nlm.nih.gov/glossary=septum">septum</a> ; <a href="http://ghr.nlm.nih.gov/glossary=stress">stress</a> ; <a href="http://ghr.nlm.nih.gov/glossary=syncope">syncope</a> ; <a href="http://ghr.nlm.nih.gov/glossary=transcript">transcript</a>
You may find definitions for these and many other terms in the Genetics Home Reference <a href="http://ghr.nlm.nih.gov/glossary">Glossary</a>.
See also <a href="http://ghr.nlm.nih.gov/Resources/medicalterminology">Understanding Medical Terminology</a>.</p>
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<p>
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 <a href="http://ghr.nlm.nih.gov/handbook/consult/findingprofessional">How can I find a genetics professional in my area?</a> in the Handbook.</p>
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