Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
CSRP3

CSRP3

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

What is the official name of the CSRP3 gene?

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 About page.

What is the normal function of the CSRP3 gene?

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

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]

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

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.

How are changes in the CSRP3 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the CSRP3 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CSRP3 gene's known or predicted involvement in human disease.

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.

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 CSRP3 gene.
  • Dilated cardiomyopathy 1M
  • Familial hypertrophic cardiomyopathy 12
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 CSRP3 gene and its association with health conditions.
OMIM
Number
Title

Where is the CSRP3 gene located?

Cytogenetic Location: 11p15.1

Molecular Location on chromosome 11: base pairs 19,182,029 to 19,210,570

The CSRP3 gene is located on the short (p) arm of chromosome 11 at position 15.1.

The CSRP3 gene is located on the short (p) arm of chromosome 11 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 How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CSRP3?

You and your healthcare professional may find the following resources about CSRP3 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 CSRP3 gene or gene products?

  • CLP
  • CMD1M
  • CMH12
  • CRP3
  • LMO4
  • MLP

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 CSRP3?

arrhythmia ; benign ; cardiac ; cardiomyopathy ; cell ; differentiation ; dilated ; dilation ; domain ; dyspnea ; familial ; gene ; gene regulation ; heart failure ; hereditary ; heritable ; hypertrophic ; hypertrophy ; intrafamilial variability ; motif ; palpitations ; protein ; septum ; stress ; 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: August 24, 2015