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MYL3

MYL3

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

What is the official name of the MYL3 gene?

The official name of this gene is “myosin, light chain 3, alkali; ventricular, skeletal, slow.”

MYL3 is the gene's official symbol. The MYL3 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 MYL3 gene?

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

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

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

Regulatory light chain of myosin. Does not bind calcium.

How are changes in the MYL3 gene related to health conditions?

Genetics Home Reference provides information about familial hypertrophic cardiomyopathy, which is associated with changes in the MYL3 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the MYL3 gene's known or predicted involvement in human disease.

Cardiomyopathy, familial hypertrophic 8 (CMH8): 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. 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 MYL3 gene.
  • Familial hypertrophic cardiomyopathy 8
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 MYL3 gene and its association with health conditions.
OMIM
Number
Title

Where is the MYL3 gene located?

Cytogenetic Location: 3p21.3-p21.2

Molecular Location on chromosome 3: base pairs 46,857,866 to 46,863,482

The MYL3 gene is located on the short (p) arm of chromosome 3 between positions 21.3 and 21.2.

The MYL3 gene is located on the short (p) arm of chromosome 3 between positions 21.3 and 21.2.

More precisely, the MYL3 gene is located from base pair 46,857,866 to base pair 46,863,482 on chromosome 3.

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

Where can I find additional information about MYL3?

You and your healthcare professional may find the following resources about MYL3 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 MYL3 gene or gene products?

  • CMH8
  • MLC1SB
  • MLC1V
  • VLC1

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 MYL3?

benign ; calcium ; cardiac ; cardiomyopathy ; dyspnea ; familial ; gene ; hereditary ; hypertrophic ; hypertrophy ; intrafamilial variability ; myosin ; myosin light chain ; palpitations ; septum ; skeletal muscle ; syncope

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 1, 2015